{"title":"SOPHiA GENETICS","description":null,"products":[{"product_id":"sophia-ddm-platform","title":"SOPHiA DDM™ Platform","description":"\u003cp\u003eA cutting-edge, cloud-native SaaS IVDR-certified* platform for the accurate analysis, standardization, and interpretation of complex healthcare data. Our advanced AI algorithms are breaking data siloes and democratizing access to anonymized real-world insights.\u003c\/p\u003e\n\u003cp\u003eChoose from three bespoke modules for diverse data types\u003c\/p\u003e\n\u003cp\u003eModules: SOPHiA DDM™ for Genomics; SOPHiA DDM™ for Radiomics; SOPHiA DDM™ for Multimodal\u003c\/p\u003e\n\u003cp\u003eA universal platform for analyzing diverse health data\u003c\/p\u003e\n\u003cp\u003eThe SOPHiA DDM™ Platform encompasses three state-of-the-art computational factories for the analysis of genomic, radiomic, and multimodal data.\u003c\/p\u003e\n\u003cp\u003eAccurately detect and classify variants from complex oncology and rare \u0026amp; inherited disorder data, with information from curated databases and community insights empowering confident decision-making.\u003c\/p\u003e\n\u003cp\u003eGain novel insights through automated, validated image segmentation and feature extraction, with a platform agnostic to 3D imaging modality, equipment, and cancer indication.\u003c\/p\u003e\n\u003cp\u003eIntegrate longitudinal data from multiple sources and data modalities to generate new insights. Leverage SOPHiA CarePath® for enhanced data visualization, cohorting, and predictive analytics.\u003c\/p\u003e\n\u003cp\u003eSOPHiA DDM™ enables sensitive detection of clinically relevant variants at low allele frequencies (\u0026lt; 0.01% VAF) for MRD.\u003c\/p\u003e\n\u003cp\u003eBy incorporating our proprietary CUMIN™ unique molecular identifier (UMI) technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/p\u003e\n\u003cp\u003eEnhance your clinical research programs with exploratory and testing\u003c\/p\u003e\n\u003cp\u003eIdentifying the specific molecular profiles of the target population for your clinical research program in an accurate, consistent, and standardized way can hinder your development process.\u003c\/p\u003e\n\u003cp\u003eBy applying our expertise in genomics and sophisticated algorithms, we help you discover, prioritize, and select the most promising biomarker targets for your clinical research program.\u003c\/p\u003e\n\u003cp\u003eConquer new summits in data-driven medicine\u003c\/p\u003e\n\u003cp\u003eSOPHiA DDM™ – Universally compatible, infinitely powerful\u003c\/p\u003e\n\u003cp\u003eA connected community for collective intelligence\u003c\/p\u003e\n\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003eBest-in-class accuracy: Using robust AI-powered algorithms to pinpoint signals amongst noise for actionable insights.\u003c\/li\u003e\n\u003cli\u003eExpedited turnaround: Harness a comprehensive platform to quickly gather and analyze multiple data types.\u003c\/li\u003e\n\u003cli\u003eAccelerated adoption: Leverage our expertise to easily integrate and scale up the right application for your institution.\u003c\/li\u003e\n\u003cli\u003eOptimized resources: Save time and control costs on data processing and storage with our scalable infrastructure.\u003c\/li\u003e\n\u003cli\u003eFull data control: Confidently generate data in-house while securely maintaining full control over your samples and data.\u003c\/li\u003e\n\u003cli\u003eAccurate: AI\/machine learning-powered algorithms accurately, analyze, standardize, and annotate data for confident decision making.\u003c\/li\u003e\n\u003cli\u003eUniversal: The technology-agnostic platform easily integrates into existing workflows, supporting diverse data types and applications.\u003c\/li\u003e\n\u003cli\u003eDecentralized: Enabling in-house data analysis empowers institutions to maintain full control of their samples and data.\u003c\/li\u003e\n\u003cli\u003eScalable: CPUs operate alongside powerful NVIDIA GPUs to process computationally heavy workloads, with samples run on their own cloud nodes.\u003c\/li\u003e\n\u003cli\u003eInteroperable: Seamless, automated data transfer between technologies, EHR, LIMS, and interpretation tools for streamlined workflows.\u003c\/li\u003e\n\u003cli\u003eSecure: HIPAA and GDPR compliant, ISO\/IEC 27001, 27017 \u0026amp; 27018 certifications, and IVDR certified.*\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch2\u003eApplications\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003eSOPHiA DDM™ for Genomics: Accurately detect and classify variants from complex oncology and rare \u0026amp; inherited disorder data, with information from curated databases and community insights empowering confident decision-making.\u003c\/li\u003e\n\u003cli\u003eSOPHiA DDM™ for Radiomics: Gain novel insights through automated, validated image segmentation and feature extraction, with a platform agnostic to 3D imaging modality, equipment, and cancer indication.\u003c\/li\u003e\n\u003cli\u003eSOPHiA DDM™ for Multimodal: Integrate longitudinal data from multiple sources and data modalities to generate new insights. Leverage SOPHiA CarePath® for enhanced data visualization, cohorting, and predictive analytics.\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/5ab2bc78-543a-4abe-87c2-7deab9f8aad4\/5ab2bc78-543a-4abe-87c2-7deab9f8aad4_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eSOPHiA DDM™ Platform\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/395e4ff5-a584-4140-b0fe-723ee3908181\/395e4ff5-a584-4140-b0fe-723ee3908181_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eData protection - US\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/86e7dbdb-90fd-4a6c-a05a-406abddfb1dd\/86e7dbdb-90fd-4a6c-a05a-406abddfb1dd_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eData protection - Rest of world\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\n\u003ch2\u003eRelated Products\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/www.sophiagenetics.com\/resource\/machine-learning-in-healthcare\/\" target=\"_blank\" rel=\"noopener\"\u003eBlog: Demystifying machine learning in healthcare: a layman's (...)\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/www.sophiagenetics.com\/resource\/the-power-of-multimodal-data-driven-medicine\/\" target=\"_blank\" rel=\"noopener\"\u003eBlog: The power of multimodal data-driven medicine\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/www.sophiagenetics.com\/knowledge-hub\/\" target=\"_blank\" rel=\"noopener\"\u003eSOPHiA GENETICS Knowledge Hub\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Default Title","offer_id":46733023248463,"sku":"SOPHIA-DDM","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/Data-upload.jpg?v=1788951266"},{"product_id":"sophia-ddm-solid-tumor-plus-solution-sts-bs0115","title":"SOPHiA DDM™ Solid Tumor Plus Solution (STS+)","description":"\u003cp\u003eSOPHiA DDM™ Solid Tumor Plus Solution (STS+) combines DNA target capture and RNA target amplicon sequencing: the DNA panel covers 42 genes associated with solid tumors, including lung, colorectal, skin and brain cancers, plus 6 loci to detect MSI status, and the RNA panel targets 143 relevant gene fusions.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e42 genes (DNA) + 143 gene fusions (RNA)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eLung, colorectal, skin and brain cancers\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eGene amplification in 24 genes including EGFR, ERBB2, FGFR2 and MET\u003cbr\u003eTERT promoter mutations C228T and C250T\u003cbr\u003eMSI status in BAT-25, BAT-26, CAT-25, NR-21, NR-22 and NR-27\u003cbr\u003eRNA gene fusions\u003cbr\u003eMET exon 14 skipping and EGFR variant III\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, fresh-frozen tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e10-50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e24 DNA + 24 RNA on Illumina MiSeq® v3 (2x300bp)\u003cbr\u003e48 DNA + 48 RNA on Illumina NextSeq® 500\/550 Mid-Output (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days for DNA, 6 hours for RNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003eFrom 4 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpect more from your molecular analyses\u003c\/strong\u003e – Go from sample to report with targeted next-generation sequencing solutions for DNA and RNA analysis. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable applications to enhance your solid tumor profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eScale your sequencing to new heights\u003c\/strong\u003e – Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAdd flavor to your solid tumor analysis\u003c\/strong\u003e – Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV\/Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications from solid tumors. Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner-agnostic fusion calling\u003c\/strong\u003e – Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing a probabilistic graphical model to reduce false positives. In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84\/84 events, including 70\/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePan-cancer MSI detection\u003c\/strong\u003e – Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples. MUSTARD™ demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE analysis). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIn-sync with ESMO guidelines\u003c\/strong\u003e – SOPHiA DDM™ for Solid Tumors – including SOPHiA DDM™ STS, SOPHiA DDM™ ROS and SOPHiA DDM™ STS+ – aligns with ESMO guidelines for NGS in advanced cancers, targeting tumor-agnostic biomarkers with an ESCAT Tier I score. It enables accurate detection of key genomic alterations, including NTRK fusions and BRAF mutations, across various cancers like non-small cell lung cancer (NSCLC) and breast cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/3228e2bb-23ca-4b07-9aab-6f94e935dbaa\/3228e2bb-23ca-4b07-9aab-6f94e935dbaa_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Solid Tumor Plus Solution (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0115ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0115ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0115ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0115MGIRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0115MGIRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0115MGIRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798537130063,"sku":"BS0115ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798537162831,"sku":"BS0115ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798537195599,"sku":"BS0115ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 16 reactions","offer_id":46798537228367,"sku":"BS0115MGIRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798537261135,"sku":"BS0115MGIRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798537293903,"sku":"BS0115MGIRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-solid-tumor-solution-sts-bs0105","title":"SOPHiA DDM™ Solid Tumor Solution (STS)","description":"\u003cp\u003eSOPHiA DDM™ Solid Tumor Solution (STS) covers 42 genes associated with solid tumors, including lung, colorectal, skin, and brain cancers. It also covers 6 unique loci to detect MSI status associated with colorectal cancer.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e42 genes + 6 MSI loci\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eLung, colorectal, skin and brain cancers\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eGene amplification in 24 genes including EGFR, ERBB2, FGFR2 and MET\u003cbr\u003eMET large deletions\u003cbr\u003eTERT promoter mutations C228T and C250T\u003cbr\u003eMSI status in 6 unique loci associated with colorectal cancer: BAT-25, BAT-26, CAT-25, NR-21, NR-22 and NR-27\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, fresh-frozen tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e≥10 ng (50 ng recommended)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e8 on Illumina MiniSeq™ Mid Output (2x150)\u003cbr\u003e24 on Illumina MiSeq® v3 (2x300bp)\u003cbr\u003e12 on Ion Torrent™ Ion S5 System (Ion 530™)\u003cbr\u003e96 on MGI DNBSEQ-G400, FCL, 1 lane of 4 (2x150)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003eFrom 4 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpect more from your molecular analyses\u003c\/strong\u003e – Go from sample to report with targeted next-generation sequencing solutions for DNA and RNA analysis. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable applications to enhance your solid tumor profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eScale your sequencing to new heights\u003c\/strong\u003e – Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAdd flavor to your solid tumor analysis\u003c\/strong\u003e – Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV\/Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications from solid tumors. Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner-agnostic fusion calling\u003c\/strong\u003e – Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing a probabilistic graphical model to reduce false positives. In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84\/84 events, including 70\/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePan-cancer MSI detection\u003c\/strong\u003e – Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples. MUSTARD™ demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE analysis). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIn-sync with ESMO guidelines\u003c\/strong\u003e – SOPHiA DDM™ for Solid Tumors – including SOPHiA DDM™ STS, SOPHiA DDM™ ROS and SOPHiA DDM™ STS+ – aligns with ESMO guidelines for NGS in advanced cancers, targeting tumor-agnostic biomarkers with an ESCAT Tier I score. It enables accurate detection of key genomic alterations, including NTRK fusions and BRAF mutations, across various cancers like non-small cell lung cancer (NSCLC) and breast cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/d7c4c199-4139-4027-8fa0-e3d2b4cfaef6\/d7c4c199-4139-4027-8fa0-e3d2b4cfaef6_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Solid Tumor Solution (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105MGIRSMY05-16\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105MGIRSMY05-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105MGIRSMY05-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798537392207,"sku":"BS0105ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798537424975,"sku":"BS0105ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798537457743,"sku":"BS0105ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 16 reactions","offer_id":46798537490511,"sku":"BS0105MGIRSMY05-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798537523279,"sku":"BS0105MGIRSMY05-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798537556047,"sku":"BS0105MGIRSMY05-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-dx-solid-tumor-solution-ce-ivd-bs0105","title":"SOPHiA DDM™ Dx Solid Tumor Solution (CE-IVD)","description":"\u003cp\u003eSOPHiA DDM™ Dx Solid Tumor Solution is a CE-IVD application intended to identify variants occurring in 42 genes involved in solid tumors by targeting specific mutation-prone positions within the genomic sequence, as an aid to healthcare professionals to make a clinical decision related to solid tumors and to provide molecular rationale for appropriate therapy.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e42 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eSolid tumors\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs and Indels in all genes of the panel\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina® MiSeq™ (Reagent Kit v3)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e24 for Illumina® MiSeq™ v3 (2x300bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e\u0026lt; 4 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eCE-IVD\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpect more from your molecular analyses\u003c\/strong\u003e – Go from sample to report with targeted next-generation sequencing solutions for DNA and RNA analysis. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable applications to enhance your solid tumor profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eScale your sequencing to new heights\u003c\/strong\u003e – Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAdd flavor to your solid tumor analysis\u003c\/strong\u003e – Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV\/Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications from solid tumors. Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner-agnostic fusion calling\u003c\/strong\u003e – Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing a probabilistic graphical model to reduce false positives. In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84\/84 events, including 70\/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePan-cancer MSI detection\u003c\/strong\u003e – Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples. MUSTARD™ demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE analysis). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIn-sync with ESMO guidelines\u003c\/strong\u003e – SOPHiA DDM™ for Solid Tumors – including SOPHiA DDM™ STS, SOPHiA DDM™ ROS and SOPHiA DDM™ STS+ – aligns with ESMO guidelines for NGS in advanced cancers, targeting tumor-agnostic biomarkers with an ESCAT Tier I score. It enables accurate detection of key genomic alterations, including NTRK fusions and BRAF mutations, across various cancers like non-small cell lung cancer (NSCLC) and breast cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/f0ca068d-61d1-4965-b020-d5b11367803c\/f0ca068d-61d1-4965-b020-d5b11367803c_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Dx Solid Tumor Solution (CE-IVD)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105ILLCSML03-016\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105ILLCSML03-032\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0105ILLCSML03-048\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eCE-IVD marked product for In Vitro Diagnostic use. Availability and regulatory status may differ by country - please contact us for the product information that applies to your laboratory.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798537588815,"sku":"BS0105ILLCSML03-016","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798537621583,"sku":"BS0105ILLCSML03-032","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798537654351,"sku":"BS0105ILLCSML03-048","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-rnatarget-oncology-solution-bs0119","title":"SOPHiA DDM™ RNAtarget Oncology Solution","description":"\u003cp\u003eSOPHiA DDM™ RNAtarget Oncology Solution is a 45-gene, capture-based RNA application to detect and interpret novel (partner-agnostic) fusions, exon skipping, SNVs and Indels associated with major lung cancer biomarkers, from as little as 10 ng of RNA or total nucleic acid.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e45 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eLung cancer (NCCN-recommended NSCLC biomarkers incl. ALK, EGFR, NTRK)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003ePartner-agnostic gene fusions\u003cbr\u003eExon skipping\u003cbr\u003eSNVs\u003cbr\u003eIndels\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng RNA or total nucleic acid (10 ng min.)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e\u0026lt; 8 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpect more from your molecular analyses\u003c\/strong\u003e – Go from sample to report with targeted next-generation sequencing solutions for DNA and RNA analysis. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable applications to enhance your solid tumor profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eScale your sequencing to new heights\u003c\/strong\u003e – Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAdd flavor to your solid tumor analysis\u003c\/strong\u003e – Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV\/Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications from solid tumors. Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner-agnostic fusion calling\u003c\/strong\u003e – Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing a probabilistic graphical model to reduce false positives. In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84\/84 events, including 70\/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePan-cancer MSI detection\u003c\/strong\u003e – Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples. MUSTARD™ demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE analysis). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIn-sync with ESMO guidelines\u003c\/strong\u003e – SOPHiA DDM™ for Solid Tumors – including SOPHiA DDM™ STS, SOPHiA DDM™ ROS and SOPHiA DDM™ STS+ – aligns with ESMO guidelines for NGS in advanced cancers, targeting tumor-agnostic biomarkers with an ESCAT Tier I score. It enables accurate detection of key genomic alterations, including NTRK fusions and BRAF mutations, across various cancers like non-small cell lung cancer (NSCLC) and breast cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/53268e73-6e53-4388-adc3-8d3cb64abafa\/53268e73-6e53-4388-adc3-8d3cb64abafa_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ RNAtarget Technology\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0119ILLRSRY15-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0119ILLRSRY15-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0119ILLRSRY15-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798537752655,"sku":"BS0119ILLRSRY15-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798537785423,"sku":"BS0119ILLRSRY15-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798537818191,"sku":"BS0119ILLRSRY15-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-dx-rnatarget-oncology-solution-ce-ivd-bs0119","title":"SOPHiA DDM™ Dx RNAtarget Oncology Solution (CE-IVD)","description":"\u003cp\u003eSOPHiA DDM™ Dx RNAtarget Oncology Solution is a CE-IVD application that identifies clinically relevant gene fusions in 11 genes and exon skipping events in EGFR and MET in RNA extracted from FFPE samples of patients with diagnosed lung cancer.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e13 genes - fusions: ALK, FGFR1, FGFR2, FGFR3, FGFR4, NRG1, NTRK1, NTRK2, NTRK3, RET, ROS1; exon skipping: EGFR vIII, MET ex14\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eLung cancer\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eGene fusions\u003cbr\u003eExon skipping\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE lung cancer tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng RNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eUp to 86 for Illumina® NextSeq™ 550 Mid Output Kit v2.5\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003eMax. 8 hours per 16 samples\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eCE-IVD\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpect more from your molecular analyses\u003c\/strong\u003e – Go from sample to report with targeted next-generation sequencing solutions for DNA and RNA analysis. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable applications to enhance your solid tumor profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eScale your sequencing to new heights\u003c\/strong\u003e – Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAdd flavor to your solid tumor analysis\u003c\/strong\u003e – Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV\/Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications from solid tumors. Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner-agnostic fusion calling\u003c\/strong\u003e – Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing a probabilistic graphical model to reduce false positives. In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84\/84 events, including 70\/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePan-cancer MSI detection\u003c\/strong\u003e – Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples. MUSTARD™ demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE analysis). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIn-sync with ESMO guidelines\u003c\/strong\u003e – SOPHiA DDM™ for Solid Tumors – including SOPHiA DDM™ STS, SOPHiA DDM™ ROS and SOPHiA DDM™ STS+ – aligns with ESMO guidelines for NGS in advanced cancers, targeting tumor-agnostic biomarkers with an ESCAT Tier I score. It enables accurate detection of key genomic alterations, including NTRK fusions and BRAF mutations, across various cancers like non-small cell lung cancer (NSCLC) and breast cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/f561aeae-418d-4863-bb63-f9f6c61686c1\/f561aeae-418d-4863-bb63-f9f6c61686c1_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Dx RNAtarget Oncology Solution (CE-IVD)\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/53268e73-6e53-4388-adc3-8d3cb64abafa\/53268e73-6e53-4388-adc3-8d3cb64abafa_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ RNAtarget Technology\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\u003ctr\u003e\n\u003ctd\u003eBS0119ILLCSRY07-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eCE-IVD marked product for In Vitro Diagnostic use. Availability and regulatory status may differ by country - please contact us for the product information that applies to your laboratory.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Default Title","offer_id":46798537982031,"sku":"BS0119ILLCSRY07-32","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-community-solid-tumor-plus-solution-57-genes-cs2603","title":"SOPHiA DDM™ Community Solid Tumor Plus Solution 57 genes","description":"\u003cp\u003eSOPHiA DDM™ Community Solid Tumor Plus Solution 57 genes (CSTS-57+) is a community-designed DNA and RNA application covering 57 genes; in addition to the diseases covered by the Solid Tumor Solution it addresses breast, ovarian and endometrial cancers.\u003c\/p\u003e\u003cp\u003eAccess targeted applications developed with and for experts like you to accurately analyze key multi-cancer biomarkers relevant for your laboratory.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e57 genes (DNA) + RNA fusion panel; panel size 83.6 kb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eSolid tumors incl. lung, colorectal, skin, brain, breast, ovarian and endometrial cancers\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, fresh-frozen tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e24-32 on Illumina NextSeq® 2000 P1 (2x150bp)\u003cbr\u003e24-32 on Illumina NextSeq® 550 Mid-Output (2x150bp)\u003cbr\u003e96 on Illumina NextSeq® 2000 P2 (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpect more from your molecular analyses\u003c\/strong\u003e – Go from sample to report with targeted next-generation sequencing solutions for DNA and RNA analysis. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable applications to enhance your solid tumor profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eScale your sequencing to new heights\u003c\/strong\u003e – Streamline your analysis with an accurate and adaptable targeted genomic profiling workflow.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAdd flavor to your solid tumor analysis\u003c\/strong\u003e – Detect even the most challenging solid tumor biomarkers with the sophisticated algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 150 FFPE samples, SOPHiA DDM™ Solid Tumor Solution (STS) demonstrated 98.8% sensitivity and 100% specificity for SNV\/Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications from solid tumors. Analysis results using SOPHiA DDM™ Solid Tumor Solution (STS) showed accurate detection of confirmed gene amplifications, including EGFR, KRAS, and ERBB2.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner-agnostic fusion calling\u003c\/strong\u003e – Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing a probabilistic graphical model to reduce false positives. In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84\/84 events, including 70\/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePan-cancer MSI detection\u003c\/strong\u003e – Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples. MUSTARD™ demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE analysis). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIn-sync with ESMO guidelines\u003c\/strong\u003e – SOPHiA DDM™ for Solid Tumors – including SOPHiA DDM™ STS, SOPHiA DDM™ ROS and SOPHiA DDM™ STS+ – aligns with ESMO guidelines for NGS in advanced cancers, targeting tumor-agnostic biomarkers with an ESCAT Tier I score. It enables accurate detection of key genomic alterations, including NTRK fusions and BRAF mutations, across various cancers like non-small cell lung cancer (NSCLC) and breast cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/1cb95507-f7d9-4d82-a517-389f836421a6\/1cb95507-f7d9-4d82-a517-389f836421a6_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: Community Solutions for Solid Tumors\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2603ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2603ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2603ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798537883727,"sku":"CS2603ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798537916495,"sku":"CS2603ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798537949263,"sku":"CS2603ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-dx-homologous-recombination-deficiency-solution-ce-ivd-bs0121","title":"SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution (CE-IVD)","description":"\u003cp\u003eSOPHiA DDM™ Dx HRD Solution is an in vitro diagnostic medical device that can be used as an aid to determine the HRD status of tumors in patients with ovarian cancer by the semi-quantitative detection of the Genomic Instability biomarker. The device is intended to be used by healthcare professionals and is based on a next-generation sequencing (NGS) workflow taking genomic DNA extracted from FFPE treated tumor material as input.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eOvarian cancer\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eGenomic Integrity status (genomic instability biomarker)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE ovarian cancer tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina® NextSeq® 500\/550\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e8 for Illumina® NextSeq® 500\/550 Mid Output Kit\u003cbr\u003e24 for Illumina® NextSeq® 500\/550 High Output Kit\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eCE-IVD\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpand identification of HRD+ samples\u003c\/strong\u003e – Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eEvery step leads to informed decisions\u003c\/strong\u003e – Empower your HRD expertise with a simple, adaptable workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eA wave of insights for every laboratory\u003c\/strong\u003e – Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eGive your HRD analysis a kick\u003c\/strong\u003e – Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable CNV analysis\u003c\/strong\u003e – Identify critical gene amplification\/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1\/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRecognized by ESMO guidelines\u003c\/strong\u003e – Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1\/2 and HRD testing using a validated assay in patients with advanced ovarian cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/7fc785d6-d1d6-441d-aca2-a194d98cbf59\/7fc785d6-d1d6-441d-aca2-a194d98cbf59_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Dx HRD Solution (CE-IVD)\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/1965d4da-4f71-4c7b-baac-c43c11ae5c03\/1965d4da-4f71-4c7b-baac-c43c11ae5c03_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Dx HRD Solution (CE-IVD)\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\u003ctr\u003e\n\u003ctd\u003eBS0121ILLCSMY08-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eCE-IVD marked product for In Vitro Diagnostic use. Availability and regulatory status may differ by country - please contact us for the product information that applies to your laboratory.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Default Title","offer_id":46798538178639,"sku":"BS0121ILLCSMY08-32","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-homologous-recombination-deficiency-hrd-solution-bs0127","title":"SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution","description":"\u003cp\u003eSOPHiA DDM™ HRD Solution is a decentralized NGS application for HRD detection in ovarian cancer samples, combining targeted sequencing of germline and somatic mutations in 28 HRR genes (including BRCA1 and BRCA2) with GIInger™, a deep learning algorithm that uses low-pass whole genome sequencing data to recognize patterns of genomic instability.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e28 HRR genes (incl. BRCA1, BRCA2) + low-pass WGS (~1x)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eOvarian cancer\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs and Indels in 28 HRR genes\u003cbr\u003eWhole gene amplification\/deletion and exon-level CNVs (incl. BRCA1\/2 large rearrangements)\u003cbr\u003eGenomic instability (Genomic Integrity Index)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina®, Complete Genomics\/MGI, Element\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpand identification of HRD+ samples\u003c\/strong\u003e – Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eEvery step leads to informed decisions\u003c\/strong\u003e – Empower your HRD expertise with a simple, adaptable workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eA wave of insights for every laboratory\u003c\/strong\u003e – Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eGive your HRD analysis a kick\u003c\/strong\u003e – Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable CNV analysis\u003c\/strong\u003e – Identify critical gene amplification\/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1\/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRecognized by ESMO guidelines\u003c\/strong\u003e – Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1\/2 and HRD testing using a validated assay in patients with advanced ovarian cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/484526dd-d378-482e-a4b6-334efc4009de\/484526dd-d378-482e-a4b6-334efc4009de_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ HRD Solution (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0127ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0127ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0127ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0127MGIRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0127MGIRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0127MGIRSMY10-96\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798538211407,"sku":"BS0127ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798538244175,"sku":"BS0127ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798538276943,"sku":"BS0127ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798538309711,"sku":"BS0127MGIRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798538342479,"sku":"BS0127MGIRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 96 reactions","offer_id":46798538375247,"sku":"BS0127MGIRSMY10-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-homologous-recombination-solution-hrs-bs0108","title":"SOPHiA DDM™ Homologous Recombination Solution (HRS)","description":"\u003cp\u003eSOPHiA DDM™ Homologous Recombination Solution (HRS) is a capture-based, sample-to-report NGS application for the targeted sequencing of 16 homologous recombination repair (HRR) genes, to identify the underlying cause of HRD across cancer types.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e16 genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCL, PALB2, PPP2R2A, RAD51B, RAD51C, RAD51D, RAD54L, TP53\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eGene- and exon-level CNVs\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, fresh-frozen tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eUp to 8 samples for Illumina MiSeq® kit v3\u003cbr\u003eUp to 4 samples for Illumina MiSeq® kit v2\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eReads per sample\u003c\/th\u003e\n\u003ctd\u003e4.7 million (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpand identification of HRD+ samples\u003c\/strong\u003e – Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eEvery step leads to informed decisions\u003c\/strong\u003e – Empower your HRD expertise with a simple, adaptable workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eA wave of insights for every laboratory\u003c\/strong\u003e – Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eGive your HRD analysis a kick\u003c\/strong\u003e – Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable CNV analysis\u003c\/strong\u003e – Identify critical gene amplification\/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1\/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRecognized by ESMO guidelines\u003c\/strong\u003e – Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1\/2 and HRD testing using a validated assay in patients with advanced ovarian cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/b6d64e16-d9a3-42ed-8854-66c2426d0bb3\/b6d64e16-d9a3-42ed-8854-66c2426d0bb3_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Extended Homologous Recombination Solution (ExtHRS) (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0108ILLRGLY05-16\u003c\/td\u003e\n\u003ctd\u003eGermline\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0108ILLRGLY05-32\u003c\/td\u003e\n\u003ctd\u003eGermline\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0108ILLRGLY05-48\u003c\/td\u003e\n\u003ctd\u003eGermline\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0108ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0108ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0108ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0108ILLRSMY10-96\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions \/ Germline","offer_id":46798538506319,"sku":"BS0108ILLRGLY05-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions \/ Germline","offer_id":46798538539087,"sku":"BS0108ILLRGLY05-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions \/ Germline","offer_id":46798538571855,"sku":"BS0108ILLRGLY05-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"16 reactions \/ Somatic","offer_id":46798538604623,"sku":"BS0108ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions \/ Somatic","offer_id":46798538637391,"sku":"BS0108ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions \/ Somatic","offer_id":46798538670159,"sku":"BS0108ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions \/ Somatic","offer_id":46798538702927,"sku":"BS0108ILLRSMY10-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-mini-homologous-recombination-solution-mini-hrs-bs0111","title":"SOPHiA DDM™ mini Homologous Recombination Solution (mini HRS)","description":"\u003cp\u003eSOPHiA DDM™ mini Homologous Recombination Solution (mini HRS) is a capture-based, sample-to-report NGS application focused on 4 key genes - BRCA1, BRCA2, RAD51B and TP53.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e4 genes: BRCA1, BRCA2, RAD51B, TP53\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eGene- and exon-level CNVs\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, fresh-frozen tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eUp to 24 samples for Illumina MiniSeq™ kit\u003cbr\u003eUp to 32 samples for Illumina MiSeq® kit v3\u003cbr\u003eUp to 24 samples for Illumina MiSeq® kit v2\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eReads per sample\u003c\/th\u003e\n\u003ctd\u003e1.6 million (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpand identification of HRD+ samples\u003c\/strong\u003e – Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eEvery step leads to informed decisions\u003c\/strong\u003e – Empower your HRD expertise with a simple, adaptable workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eA wave of insights for every laboratory\u003c\/strong\u003e – Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eGive your HRD analysis a kick\u003c\/strong\u003e – Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable CNV analysis\u003c\/strong\u003e – Identify critical gene amplification\/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1\/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRecognized by ESMO guidelines\u003c\/strong\u003e – Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1\/2 and HRD testing using a validated assay in patients with advanced ovarian cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/b6d64e16-d9a3-42ed-8854-66c2426d0bb3\/b6d64e16-d9a3-42ed-8854-66c2426d0bb3_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Extended Homologous Recombination Solution (ExtHRS) (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0111ILLRGLY05-32\u003c\/td\u003e\n\u003ctd\u003eGermline\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0111ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0111ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0111ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"32 reactions \/ Germline","offer_id":46798538735695,"sku":"BS0111ILLRGLY05-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"16 reactions \/ Somatic","offer_id":46798538768463,"sku":"BS0111ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions \/ Somatic","offer_id":46798538801231,"sku":"BS0111ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions \/ Somatic","offer_id":46798538833999,"sku":"BS0111ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-extended-homologous-recombination-solution-exthrs-bs0128","title":"SOPHiA DDM™ Extended Homologous Recombination Solution (ExtHRS)","description":"\u003cp\u003eSOPHiA DDM™ ExtHRS is a sample-to-report NGS application that allows researchers to go further with their HRR mutation sequencing and identify the cause of HRD across cancer types, including ovarian, breast, prostate, colon, lung and pancreatic.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e28 HRR-associated genes (26 targeted for CNV detection)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eOvarian, breast, prostate, colon, lung and pancreatic cancers\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eGene- and exon-level CNVs (incl. BRCA large genomic rearrangements)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, fresh-frozen tissue\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eUp to 32 samples for Illumina® NextSeq® 500\/550 Mid Output Kit (also compatible with NovaSeq®, Element and MGI sequencers)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eReads per sample\u003c\/th\u003e\n\u003ctd\u003e8 million (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpand identification of HRD+ samples\u003c\/strong\u003e – Streamline your sample-to-report workflow with SOPHiA DDM™ for HRD. Leverage our flexible platform that offers a comprehensive range of guideline-driven and ready-to-use next generation sequencing (NGS)-based applications to enhance your HRD assessment capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eEvery step leads to informed decisions\u003c\/strong\u003e – Empower your HRD expertise with a simple, adaptable workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eA wave of insights for every laboratory\u003c\/strong\u003e – Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eGive your HRD analysis a kick\u003c\/strong\u003e – Enhance your HRR mutation analysis and explore genomic instability with the advanced analytical capabilities and AI-driven algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. The GIInger™ algorithm is designed to complement different capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) in HRR genes associated with HRD. PEPPER™’s sophisticated algorithms differentiate true signal from noise, providing you with reliable results to guide your decisions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable CNV analysis\u003c\/strong\u003e – Identify critical gene amplification\/deletion and exon-level copy number variation (CNV) events associated with HRD status, including BRCA1\/2 or PTEN deletions and CCNE1 amplification. Our CNV calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genetic variants in HRD-associated cancers with MOKA™. Our annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRecognized by ESMO guidelines\u003c\/strong\u003e – Considering the potential benefit of poly (ADP-ribose) polymerase inhibitor (PARPi) therapy, ESMO recommends carrying out BRCA1\/2 and HRD testing using a validated assay in patients with advanced ovarian cancer.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/b6d64e16-d9a3-42ed-8854-66c2426d0bb3\/b6d64e16-d9a3-42ed-8854-66c2426d0bb3_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Extended Homologous Recombination Solution (ExtHRS) (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128ILLRSCY12-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003ecfDNA\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128ILLRSCY12-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003ecfDNA\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128ILLRSCY12-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003ecfDNA\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128ILLRSMY10-96\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003eSomatic\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128MGIRSCY12-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003ecfDNA\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0128MGIRSCY12-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003ecfDNA\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions \/ cfDNA","offer_id":46798538932303,"sku":"BS0128ILLRSCY12-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions \/ cfDNA","offer_id":46798538965071,"sku":"BS0128ILLRSCY12-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions \/ cfDNA","offer_id":46798538997839,"sku":"BS0128ILLRSCY12-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 16 reactions \/ Somatic","offer_id":46798539030607,"sku":"BS0128ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions \/ Somatic","offer_id":46798539063375,"sku":"BS0128ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions \/ Somatic","offer_id":46798539096143,"sku":"BS0128ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 96 reactions \/ Somatic","offer_id":46798539128911,"sku":"BS0128ILLRSMY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions \/ cfDNA","offer_id":46798539161679,"sku":"BS0128MGIRSCY12-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions \/ cfDNA","offer_id":46798539194447,"sku":"BS0128MGIRSCY12-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"msk-impact-powered-with-sophia-ddm-bs0126","title":"MSK-IMPACT® powered with SOPHiA DDM™","description":"\u003cp\u003eMSK-IMPACT® powered with SOPHiA DDM™ is a decentralized version of the highly validated comprehensive genomic profiling (CGP) test developed and routinely used by Memorial Sloan Kettering Cancer Center (MSK), involving the targeted sequencing of 505 genes associated with rare and common cancers.\u003c\/p\u003e\u003cp\u003eEnhance your genomic profiling with a decentralized version of the best-in-class, 505-gene next-generation sequencing (NGS) application used in routine by Memorial Sloan Kettering Cancer Center (MSK) experts. Learn More \u0026gt;\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e505 genes (DNA)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eMulti-cancer (any solid tumor)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\/Indels\u003cbr\u003eCNVs (gene amplifications and deletions)\u003cbr\u003eIntronic coverage of 23 genes for novel fusion detection\u003cbr\u003eTERT promoter\u003cbr\u003eMET exon 14 skipping\u003cbr\u003eTMB\u003cbr\u003eMSI\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE and matched normal blood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng FFPE DNA (min. 10 ng), 50 ng white blood cell gDNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina® NovaSeq™ 6000 and NovaSeq™ X\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eReads per sample\u003c\/th\u003e\n\u003ctd\u003e66M paired-end reads per sample, 150 bp read length\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eApplication Type\u003c\/th\u003e\n\u003ctd\u003eBundle (sample-to-report)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eBring clarity to your CGP analysis\u003c\/strong\u003e – Uncover novel CGP insights with a comprehensive range of guideline-driven, ready-to-use next generation sequencing (NGS)-based applications to enhance your genomic profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eEvery step leads to informed decisions\u003c\/strong\u003e – Accelerate multi-cancer insights with a streamlined, automatable workflow that fits your laboratory’s needs.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eElevate your research with accurate tumor profiling\u003c\/strong\u003e – Reliably call, annotate, and pre-classify variants and biomarkers with proprietary SOPHiA DDM™ algorithms that span multiple variant types.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV, Indel \u0026amp; TMB detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling algorithm implements relevant analytical modules that are tailored to reduce noise linked to sample type, sequencer, and library preparation. The SNVs and Indels called by SOPHiA DDM™ are used to accurately estimate tumor mutational burden (TMB). For example, our technology demonstrated high correlation for overall (R = 0.99) and non-synonymous (R = 0.99) TMB estimation when compared to a standard assay.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. MUSKAT™ accurately detects and reports whole gene amplifications and deletions, and exon-level CNVs.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner-agnostic fusion calling\u003c\/strong\u003e – Our fusion calling technology accurately calls novel (partner-agnostic) fusions from DNA and RNA, utilizing a probabilistic graphical model to reduce false positives. In analyses of RNA and tNA reference and clinical samples, CARDAMOM demonstrated 100% sensitivity (84\/84 events, including 70\/70 in 66 clinical samples), detecting 7 events missed by an amplicon-based approach.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eUniversal genomic integrity assessment\u003c\/strong\u003e – Apply deep learning-based analysis to low-pass WGS data (~1x coverage) in a decentralized workflow. GIInger™ is designed to complement capture-based BRCA workflows for a complete HRD assessment, with no impact on previous validation. Beyond ovarian cancer, GIInger™ adapts universally across solid tumor applications, from targeted to CGP solutions. GIInger™ demonstrated high analytical concordance to centralized reference methods for HRD assessment in ovarian cancer (92.91% overall percent agreement).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePan-cancer MSI detection\u003c\/strong\u003e – Our microsatellite instability (MSI) technology relies on a powerful curve-fitting algorithm to better identify differences in the read length distribution of MSI and normal samples. MUSTARD™ technology demonstrated analytically accurate MSI detection in colorectal and endometrial cancer (100%), as well as in more challenging tumor types such as glioma (97.8%).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF for FFPE anaylsis). By incorporating our proprietary CUMIN™ molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our annotation algorithm retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants. Coupled with SOPHiA DDM™’s filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eMatched tumor-normal approach\u003c\/strong\u003e – A key limitation of tumor-only sequencing is its inability to differentiate between germline and somatic mutations. A study found that this approach could produce false positives for up to one-third of detected alterations.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/fca87090-fd77-41b2-823b-bd5adb172b9b\/fca87090-fd77-41b2-823b-bd5adb172b9b_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: MSK-IMPACT® powered with SOPHiA DDM™\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/2698d7a4-4d50-4a30-a859-2fd2f3a53bc8\/2698d7a4-4d50-4a30-a859-2fd2f3a53bc8_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: MSK-IMPACT® powered with SOPHiA DDM™\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0126ILLRGSY13-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0126ILLRGSY13-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0126ILLRGSY13-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0126MGIRGSY13-16\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0126MGIRGSY13-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0126MGIRGSY13-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798539227215,"sku":"BS0126ILLRGSY13-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798539259983,"sku":"BS0126ILLRGSY13-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798539292751,"sku":"BS0126ILLRGSY13-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 16 reactions","offer_id":46798539325519,"sku":"BS0126MGIRGSY13-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798539358287,"sku":"BS0126MGIRGSY13-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798539391055,"sku":"BS0126MGIRGSY13-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"msk-impact-flex-powered-with-sophia-ddm-bs0132","title":"MSK-IMPACT® Flex powered with SOPHiA DDM™","description":"\u003cp\u003eOptimize lab efficiency with a modular solution built on the expertly curated MSK-IMPACT® content, covering 533 DNA genes and 140 RNA genes, with the option to add RNA and HRD analysis at a sample level. Learn More \u0026gt;\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e533 DNA (incl. 505 genes from MSK-IMPACT®)\u003cbr\u003e140 RNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eMulti-cancer (any solid tumor)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eFrom DNA:\u003cbr\u003eSNVs\/Indels in 533 genes\u003cbr\u003eWhole gene amplifications and deletions in 520 genes\u003cbr\u003eGene-level and exon-level CNVs in 49 genes\u003cbr\u003eTERT promoter\u003cbr\u003eTMB\u003cbr\u003eMSI\u003cbr\u003eHRD (optional)\u003cbr\u003eFrom RNA:\u003cbr\u003ePartner-agnostic fusions in 135 genes\u003cbr\u003eExon skipping events in 9 genes\u003cbr\u003eGene expression in 56 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, fresh-frozen\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA (min. 10 ng), 50 ng RNA (min. 10 ng)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina® NextSeq® 550\/1000\/2000\u003cbr\u003eIllumina® NovaSeq™ 6000, X\u003cbr\u003eCompatible with MGI and Element sequencers\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days (DNA only)\u003cbr\u003e2 days (DNA+RNA)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003eDNA only – \u0026lt;10 hours\u003cbr\u003eDNA + RNA – \u0026lt;15 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eApplication Type\u003c\/th\u003e\n\u003ctd\u003eBundle (sample-to-report)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLimit of detection at 95% (LOD95)\u003c\/th\u003e\n\u003ctd\u003e5%\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRecommended paired-end reads\u003c\/th\u003e\n\u003ctd\u003eDNA capture – 51 million\u003cbr\u003eRNA capture – 11 million\u003cbr\u003eDNA whole genome sequencing (at ~1x coverage) – 20 million\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eFlexible CGP analysis without compromise\u003c\/h2\u003e\u003cp\u003eAchieve scalable analysis of solid tumors with an agile and modular approach to comprehensive genomic profiling (CGP), eliminating the need for multiple tests.\u003c\/p\u003e\u003cp\u003eBuilt on the expert-designed content of MSK-IMPACT® and combined with the adaptive analytics of the SOPHiA DDM™ Platform, MSK-IMPACT® Flex powered with SOPHiA DDM™ delivers high-resolution profiling of complex biomarkers from DNA and RNA in a single, end-to-end workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eExpert content design\u003c\/strong\u003e – Built on the backbone of MSK-IMPACT®, curated by Memorial Sloan Kettering Cancer Center (MSK) experts and verified in over 1,000 MSK publications.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eIn-depth CNV detection\u003c\/strong\u003e – Gain high-resolution profiling of gene and exon-level CNVs, with genome-wide copy number context.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eComprehensive profiling\u003c\/strong\u003e – Detect all major variant classes (SNVs\/Indels, CNVs, partner-agnostic fusions, exon-skipping events, gene expression) and complex signatures (TMB, MSI, HRD).\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eMaximized lab efficiency\u003c\/strong\u003e – Reduce turnaround time by eliminating send-outs and covering DNA and RNA analysis in a single, automated workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eModular analysis\u003c\/strong\u003e – Add RNA and HRD analysis at the sample level to tailor biomarker coverage, reducing unecessary testing.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eEnhanced interpretation\u003c\/strong\u003e – Navigate variant interpretation at every level, from individual alterations to broader clinical context, with OncoPortal™ Knowledge Base.\u003c\/p\u003e\u003ch2\u003eStreamline your workflow\u003c\/h2\u003e\u003cp\u003eBoost lab efficiency with a single, streamlined, end-to-end NGS workflow that allows you to analyze multiple data modalities in one sequencing run. All variant detection and interpretation steps are powered by the SOPHiA DDM™ Platform, giving you full control over your data and samples.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAdvancing precision oncology – your way\u003c\/strong\u003e – The modular architecture of the SOPHiA DDM™ Platform enables a truly flexible approach to CGP. You can easily integrate analytical modules – DNA capture, RNA capture and\/or low-pass whole-genome sequencing analysis – at the sample level. This approach allows you to tailor workflows to your institution’s specific needs and deliver the most relevant insights for every case.\u003c\/p\u003e\u003cp\u003eTake your research further by complementing your tissue analysis with SOPHiA DDM™ for Liquid Biopsy, enabling advanced monitoring of resistance and a comprehensive view of the tumor landscape.\u003c\/p\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/2bf4a2ec-6501-4bc1-8d0e-df5357434a59\/2bf4a2ec-6501-4bc1-8d0e-df5357434a59_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: MSK-IMPACT® Flex powered with SOPHiA DDM™\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/f786fd6b-b532-46b5-90ef-d9aa164968e5\/f786fd6b-b532-46b5-90ef-d9aa164968e5_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: MSK-IMPACT® Flex powered with SOPHiA DDM™\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/a1dcde56-e7ef-470c-bf47-b63f7d85f0c4\/a1dcde56-e7ef-470c-bf47-b63f7d85f0c4_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003ePoster: MSK-IMPACT® Flex powered with SOPHiA DDM™\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132ILLRSMY13-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132ILLRSMY13-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132ILLRSMY13-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132ILLRSMY13-96\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132MGIRSMY13-16\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132MGIRSMY13-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132MGIRSMY13-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0132MGIRSMY13-96\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798539489359,"sku":"BS0132ILLRSMY13-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798539522127,"sku":"BS0132ILLRSMY13-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798539554895,"sku":"BS0132ILLRSMY13-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 96 reactions","offer_id":46798539587663,"sku":"BS0132ILLRSMY13-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 16 reactions","offer_id":46798539620431,"sku":"BS0132MGIRSMY13-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798539653199,"sku":"BS0132MGIRSMY13-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798539685967,"sku":"BS0132MGIRSMY13-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 96 reactions","offer_id":46798539718735,"sku":"BS0132MGIRSMY13-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"msk-access-powered-with-sophia-ddm-bs2549","title":"MSK-ACCESS® powered with SOPHiA DDM™","description":"\u003cp\u003eMSK-ACCESS® powered with SOPHiA DDM™ is a decentralized version of the highly validated liquid biopsy assay developed and routinely used by Memorial Sloan Kettering Cancer Center (MSK), involving the deep sequencing (~20,000x) of 147 key cancer-associated genes, from extracted cell-free DNA (cfDNA) to comprehensive report in ~5 days.\u003c\/p\u003e\u003cp\u003eAssess 147 key cancer-associated genes curated by MSK experts, leveraging a matched tumor-normal workflow to distinguish somatic from germline and CHIP variants.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e147 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eMulti-cancer (any solid tumor)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs and Indels in 147 genes\u003cbr\u003eCNVs in 71 genes\u003cbr\u003eFusions (DNA-based via intronic targets) in 10 genes\u003cbr\u003eTERT promoter\u003cbr\u003eMET exon 14 skipping\u003cbr\u003eMicrosatellite instability (MSI)\u003cbr\u003eCirculating tumor DNA (ctDNA) fraction\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003ePaired samples of cell-free DNA extracted from peripheral blood and white blood cell gDNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e20 ng cell-free DNA (minimum); 50 ng white blood cell (WBC) gDNA (minimum)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eIllumina NovaSeq™ 6000:\u003cbr\u003eSP flow cell: 8 (tumor + normal) pairs\u003cbr\u003eS1 flow cell: 16 (tumor + normal) pairs\u003cbr\u003eS2 flow cell: 40 (tumor + normal) pairs\u003cbr\u003eS4 flow cell: 96 (tumor + normal) pairs\u003cbr\u003eIllumina NextSeq® 2000 (P3 flow cell):\u003cbr\u003e8 (tumor + normal) pairs, with 33% sequencing space left\u003cbr\u003eIllumina NextSeq® 2000 (P4 flow cell):\u003cbr\u003e16 (tumor + normal) pairs\u003cbr\u003eIllumina NovaSeq™ X:\u003cbr\u003e1.5B: 16 (tumor + normal) pairs\u003cbr\u003e10B: 96 (tumor + normal) pairs\u003cbr\u003e25B: 256 (tumor + normal) pairs\u003cbr\u003eAlso compatible with MGI DNBSEQ-T7 and Element AVITI.\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eReads per sample\u003c\/th\u003e\n\u003ctd\u003eRaw read depth: 100m fragments per tumor + normal pair\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRecommended read length\u003c\/th\u003e\n\u003ctd\u003e150 bp, paired end\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eCoverage depth\u003c\/th\u003e\n\u003ctd\u003eApprox. 20,000x\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eElevate your precision oncology program\u003c\/h2\u003e\u003cp\u003ePush the boundaries of your in-house liquid biopsy research capabilities with MSK-ACCESS® powered with SOPHiA DDM™, a decentralized version of the rigorously validated cell-free DNA (cfDNA) assay developed and used in clinical routine by Memorial Sloan Kettering Cancer Center (MSK) 1,2.\u003c\/p\u003e\u003cp\u003eDiscover an innovative solution that combines MSK’s expertise in cancer genomics with the robust analytics of the SOPHiA DDM™ Platform for paradigm-shifting liquid biopsy insights.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eExpert knowledge-driven design\u003c\/strong\u003e – Focus on what matters with a comprehensive 147 gene panel curated by MSK experts.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eRobust analytical performance\u003c\/strong\u003e – Trust your results with demonstrated 99.4% positive percent agreement (≥0.5% VAF) to MSK-ACCESS® used at MSK³.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eEnd-to-end application\u003c\/strong\u003e – Save time with a streamlined workflow, taking you from cfDNA sample to report in ∼5 days.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eInsights over time\u003c\/strong\u003e – Maximize insights with variant calling across sequential tests, facilitating longitudinal monitoring.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eDetection of true somatic variants\u003c\/strong\u003e – Increase confidence in your variant calling by filtering out clonal hematopoietic and germline variants with a matched tumor-normal approach\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eEnhanced interpretation support\u003c\/strong\u003e – Leverage user-friendly interpretation features, including access to MSK’s Precision Oncology Knowledge Base, OncoKB™.\u003c\/p\u003e\u003ch2\u003eSave time with a streamlined end-to-end workflow\u003c\/h2\u003e\u003cp\u003eEquip your laboratory with a true sample-to-report workflow that combines in-house hybrid capture and cloud-based analytics, allowing you to to retain ownership of your samples and data.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eEasy library preparation and capture\u003c\/strong\u003e\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e147 gene panel, curated by MSK experts and selected from MSK’s cancer genomic profiling assay, MSK-IMPACT®\u003c\/li\u003e\n\u003cli\u003eHybridization-based capture with deep sequencing (~20,000x)\u003c\/li\u003e\n\u003cli\u003eTailored probes for high on-target rate and coverage uniformity\u003c\/li\u003e\n\u003cli\u003eMinimal input amount of only 20 ng cfDNA\u003c\/li\u003e\n\u003cli\u003eReady-to-sequence libraries in just 1.5 days\u003c\/li\u003e\n\u003cli\u003eOptimized multiplexing of paired tumor-normal samples for a cost-effective process\u003c\/li\u003e\n\u003cli\u003eIncorporation of matched normal sample requires only 20% of sequencing space\u003c\/li\u003e\n\u003cli\u003eCompatible with Illumina®, Complete Genomics\/MGI and Element sequencers\u003c\/li\u003e\n\u003c\/ul\u003e\u003cp\u003e\u003cstrong\u003eAdvanced analysis with the SOPHiA DDM™ Platform\u003c\/strong\u003e – Somatic mutations accumulate in cells with a hematopoietic lineage (e.g. stem cells in the bone marrow) as we age or in response to environmental influences. These mutations are known as CHIP. CHIP mutations can be detected in the plasma and wrongly attributed to solid tumor origins 4,5.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003eAlgorithm-powered detection of SNVs, Indels, CNV, fusions, and MSI\u003c\/li\u003e\n\u003cli\u003eProprietary molecular identifier technology, CUMIN®, for sensitive variant detection down to 0.5% VAF\u003c\/li\u003e\n\u003cli\u003eTertiary analysis based on the latest scientific evidence on relevant variants with OncoPortal™ Knowledge Base​\u003c\/li\u003e\n\u003cli\u003eAccess via hyperlink to MSK’s Precision Oncology Knowledge Base, OncoKB™, for enhanced interpretation support\u003c\/li\u003e\n\u003cli\u003eKnowledge-sharing within SOPHiA GENETICS Community, a unique network of connected healthcare institutions\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eIncrease confidence in your variant calling with a matched tumor-normal approach\u003c\/h2\u003e\u003cp\u003eClonal hematopoiesis of indeterminate potential (CHIP) is a common cause of biological false positives in cfDNA analysis. MSK-ACCESS® powered with SOPHiA DDM™ leverages a matched tumor-normal approach that enables CHIP filtering and eliminates the risk of:\u003c\/p\u003e\u003cp\u003eBy sequencing tumor-derived cfDNA and normal white blood cell DNA in parallel, you can effectively reduce noise in your data analysis and focus on tumor-specific somatic variants.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003eBiological false positives at low allele frequencies (e.g. in BRCA1).\u003c\/li\u003e\n\u003cli\u003eRemoving true positives, if using only database-driven approaches to annotate CHIP.\u003c\/li\u003e\n\u003c\/ul\u003e\u003cp\u003e\u003cstrong\u003eTrust your data\u003c\/strong\u003e – In an end-to-end comparison of 48 cfDNA + matched white blood cell DNA samples, MSK-ACCESS® powered with SOPHiA DDM™ achieved 99.4% positive percent agreement (≥0.5% VAF) with the centralized version used at MSK.\u003c\/p\u003e\u003cp\u003eVAF, variant allele frequency. a) Based on end-to-end concordance analysis between MSK-ACCESS® powered with SOPHiA DDM™ and centralized version of MSK-ACCESS® at MSK, using 48 cfDNA + matched WBC DNA samples; b) Correlation of variant allele fraction to reference method.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eSearching for robust insights? Let SOPHiA DDM™ search for you\u003c\/strong\u003e – The trusted analytics and advanced features of the SOPHiA DDM™ Platform enable the accurate detection and characterization of complex genomic variants, while adhering to the most up-to-date international guidelines.\u003c\/p\u003e\u003cp\u003eOncoPortal™ Knowledge Base further supports decision-making and reporting by matching tumor molecular profiles with clinical associations and available clinical trials. I n addition, the application offers access to MSK ’s Precision Oncology Knowledge Base, OncoKB™, via a link in SOPHiA DDM™ for comprehensive genomic insights.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAddressing global inequalities in comprehensive cancer care\u003c\/strong\u003e – AstraZeneca and MSK have joined forces with SOPHiA GENETICS to revolutionize cancer research. Together, we are creating a decentralized global network for liquid biopsy testing, including underserved regions where access remains scarce.\u003c\/p\u003e\u003cp\u003eGenerating an unparalleled and comprehensive dataset sourced from diverse populations holds the potential for invaluable insights that could shape the future of global healthcare.\u003c\/p\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/dd33ce4e-6245-46ef-b26e-f97f3db441c0\/dd33ce4e-6245-46ef-b26e-f97f3db441c0_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: MSK-ACCESS® powered with SOPHiA DDM™ (RUO)\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/78367a53-666b-453d-a6db-2b658041398e\/78367a53-666b-453d-a6db-2b658041398e_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: MSK-ACCESS® powered with SOPHiA DDM™ (RUO)\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2549ILLRSDY14-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2549MGIRSDY14-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2549MGBRSDY14-32\u003c\/td\u003e\n\u003ctd\u003eMGI (MGB)\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2549MGBRSDY14-48\u003c\/td\u003e\n\u003ctd\u003eMGI (MGB)\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 32 reactions","offer_id":46798539751503,"sku":"BS2549ILLRSDY14-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798539784271,"sku":"BS2549MGIRSDY14-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI (MGB) \/ 32 reactions","offer_id":46798539817039,"sku":"BS2549MGBRSDY14-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI (MGB) \/ 48 reactions","offer_id":46798539849807,"sku":"BS2549MGBRSDY14-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-hereditary-cancer-solution-v2-0-hcs-v2-0-bs0125","title":"SOPHiA DDM™ Hereditary Cancer Solution v2.0 (HCS v2.0)","description":"\u003cp\u003eSOPHiA DDM™ Hereditary Cancer Solution v2.0 (HCS v2.0) covers the coding regions and splicing junctions of 83 genes (target region of 285 kb) associated with Hereditary Breast and Ovarian Cancer (HBOC), prostate and abdominal cancers, endocrine and neuroendocrine cancers, nervous system, renal and skin cancers and all other major hereditary cancer syndromes. It also includes Pengelly SNPs for reliable sample tracking.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e82 genes + PMS2CL pseudogene\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eBreast, ovarian, prostate, abdominal, endocrine \u0026amp; neuroendocrine, nervous system, renal, and skin\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eAlu insertions\u003cbr\u003ePMS2 vs PMS2CL variants\u003cbr\u003eBoland inversion\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e285 kb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina MiSeq®, NextSeq® 500\/550, NextSeq® 1000\/2000\u003cbr\u003eMGI DNBSEQ-G400\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e16 for Illumina MiSeq® v3 (2x300bp), 8-12 for v2 (2x150bp)\u003cbr\u003e48 for Illumina NextSeq® 2000 P1, 192 for P2\u003cbr\u003e72 for Illumina NextSeq® 500\/550 mid-output, 192 for high-output\u003cbr\u003e96 for MGI DNBSEQ-G400, FCL, 1 lane of 4 (2x200)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e4 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccelerate your path to prevention\u003c\/strong\u003e – Confidently assess mutation profiles across diverse cancer types with our comprehensive, guideline-driven portfolio of ready-to-use and customizable applications. Go from sample to report within a single workflow, leveraging insights supported by curated scientific databases and the collective knowledge of our community.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eSpeed up your germline sequencing journey\u003c\/strong\u003e – Streamline your hereditary cancer analysis workflow, from sample to customized report.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurning data into insights\u003c\/strong\u003e – Uncover challenging variants in your germline mutation analysis with the powerful algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise Alu insertion detection\u003c\/strong\u003e – Gene rearrangements caused by Alu elements are implicated in several genetic diseases and cancers. Normally, Alu elements create insertions of ~300bp long that cannot be fully covered by a single sequencing read. SOPHiA DDM™ harnesses the “soft-clipping” signals (mismatched reads) to accurately detect and annotate different types of Alu insertions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable Boland inversion identification\u003c\/strong\u003e – SOPHiA DDM™ supports identification of an inversion of exons 1-7 in the MSH2 gene. This change, known as Boland inversion, is a frequent cause of unexplained Lynch Syndrome. Our probe design enables the amplification of the Boland inversion for reliable detection by SOPHiA DDM™.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eClear PMS2\/PMS2CL visualization\u003c\/strong\u003e – The detection of germline variants in PMS2 is complicated by the presence of pseudogenes. Through a specific gene-conversion add-on, SOPHiA DDM™ shows variants that are PMS2 gene-like or PMS2CL pseudogene-like in highly homologous and polymorphic regions (i.e. exon 11-15 of PMS2 and corresponding exons of PMS2CL).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling technology implements relevant analytical modules tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 17 blood samples, the SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0 achieved 100% sensitivity for SNV and Indel calling, 100% precision for SNV calling, and 98.5% precision for Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. In an analysis of 11 blood samples, the SOPHiA DDM™ HCS v2.0 achieved 100% sensitivity for CNV calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo predictions to establish the likely effects and pathogenicity of genetic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/75bc62e1-0a8b-4c00-b56d-220d0794b2a3\/75bc62e1-0a8b-4c00-b56d-220d0794b2a3_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ HCS v2.0 (RUO)\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/88db46a0-b893-4f88-a7f3-79e9c57b6ba7\/88db46a0-b893-4f88-a7f3-79e9c57b6ba7_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ HCS v2.0 (RUO)\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125ILLRGLY10-384\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125MGIRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125MGIRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125MGIRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0125MGIRGLY10-384\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798539948111,"sku":"BS0125ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798539980879,"sku":"BS0125ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798540013647,"sku":"BS0125ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 96 reactions","offer_id":46798540046415,"sku":"BS0125ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 384 reactions","offer_id":46798540079183,"sku":"BS0125ILLRGLY10-384","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798540111951,"sku":"BS0125MGIRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798540144719,"sku":"BS0125MGIRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 96 reactions","offer_id":46798540177487,"sku":"BS0125MGIRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 384 reactions","offer_id":46798540210255,"sku":"BS0125MGIRGLY10-384","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-hereditary-cancer-solution-v1-1-hcs-v1-1-bs0102","title":"SOPHiA DDM™ Hereditary Cancer Solution v1.1 (HCS v1.1)","description":"\u003cp\u003eSOPHiA DDM™ Hereditary Cancer Solution v1.1 (HCS v1.1) is a capture-based application covering 26 genes plus the PMS2CL pseudogene associated with Hereditary Breast and Ovarian Cancer (HBOC), Lynch and intestinal polyposis syndromes.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e26 genes + PMS2CL pseudogene\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eHereditary Breast and Ovarian Cancer (HBOC), Lynch and various intestinal polyposis syndromes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eAlu insertions\u003cbr\u003ePMS2 vs PMS2CL variants\u003cbr\u003eBoland inversion\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e105 kb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina MiniSeq™, MiSeq®, NextSeq® 500\/550\u003cbr\u003eThermo Fisher Scientific Ion Proton™, Ion S5™\u003cbr\u003eMGI DNBSEQ-G400\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e4 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccelerate your path to prevention\u003c\/strong\u003e – Confidently assess mutation profiles across diverse cancer types with our comprehensive, guideline-driven portfolio of ready-to-use and customizable applications. Go from sample to report within a single workflow, leveraging insights supported by curated scientific databases and the collective knowledge of our community.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eSpeed up your germline sequencing journey\u003c\/strong\u003e – Streamline your hereditary cancer analysis workflow, from sample to customized report.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurning data into insights\u003c\/strong\u003e – Uncover challenging variants in your germline mutation analysis with the powerful algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise Alu insertion detection\u003c\/strong\u003e – Gene rearrangements caused by Alu elements are implicated in several genetic diseases and cancers. Normally, Alu elements create insertions of ~300bp long that cannot be fully covered by a single sequencing read. SOPHiA DDM™ harnesses the “soft-clipping” signals (mismatched reads) to accurately detect and annotate different types of Alu insertions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable Boland inversion identification\u003c\/strong\u003e – SOPHiA DDM™ supports identification of an inversion of exons 1-7 in the MSH2 gene. This change, known as Boland inversion, is a frequent cause of unexplained Lynch Syndrome. Our probe design enables the amplification of the Boland inversion for reliable detection by SOPHiA DDM™.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eClear PMS2\/PMS2CL visualization\u003c\/strong\u003e – The detection of germline variants in PMS2 is complicated by the presence of pseudogenes. Through a specific gene-conversion add-on, SOPHiA DDM™ shows variants that are PMS2 gene-like or PMS2CL pseudogene-like in highly homologous and polymorphic regions (i.e. exon 11-15 of PMS2 and corresponding exons of PMS2CL).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling technology implements relevant analytical modules tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 17 blood samples, the SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0 achieved 100% sensitivity for SNV and Indel calling, 100% precision for SNV calling, and 98.5% precision for Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. In an analysis of 11 blood samples, the SOPHiA DDM™ HCS v2.0 achieved 100% sensitivity for CNV calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo predictions to establish the likely effects and pathogenicity of genetic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLRGLY10-384\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102TFSRGLL01-048\u003c\/td\u003e\n\u003ctd\u003eThermo Fisher Ion Torrent\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798540439631,"sku":"BS0102ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798540472399,"sku":"BS0102ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798540505167,"sku":"BS0102ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 96 reactions","offer_id":46798540537935,"sku":"BS0102ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 384 reactions","offer_id":46798540570703,"sku":"BS0102ILLRGLY10-384","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Thermo Fisher Ion Torrent \/ 48 reactions","offer_id":46798540603471,"sku":"BS0102TFSRGLL01-048","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-dx-hereditary-cancer-solution-ce-ivd-bs0102","title":"SOPHiA DDM™ Dx Hereditary Cancer Solution (CE-IVD)","description":"\u003cp\u003eSOPHiA DDM™ Dx Hereditary Cancer Solution is an in vitro diagnostic test intended for the identification of germline variations occurring in 27 most common genes involved in predispositions to breast and ovarian cancers as well as intestinal cancers in germline DNA samples isolated from peripheral blood. It is intended to be used as an aid to healthcare professionals and to provide molecular rationale to make a clinical decision related to germline mutations associated with breast and ovarian cancer, intestinal polyposis syndromes, and Lynch syndrome.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e26 genes + PMS2CL pseudogene\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eBreast and ovarian cancers and colorectal syndromes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs (Clinical Decision Support only)\u003cbr\u003ePMS2 vs PMS2CL variants (Clinical Decision Support only)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e105 kb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina MiSeq®\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e48 for Illumina® MiSeq™ v3 (2x300bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e2 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e\u0026lt; 6 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eCE-IVD\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccelerate your path to prevention\u003c\/strong\u003e – Confidently assess mutation profiles across diverse cancer types with our comprehensive, guideline-driven portfolio of ready-to-use and customizable applications. Go from sample to report within a single workflow, leveraging insights supported by curated scientific databases and the collective knowledge of our community.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eSpeed up your germline sequencing journey\u003c\/strong\u003e – Streamline your hereditary cancer analysis workflow, from sample to customized report.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurning data into insights\u003c\/strong\u003e – Uncover challenging variants in your germline mutation analysis with the powerful algorithms of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise Alu insertion detection\u003c\/strong\u003e – Gene rearrangements caused by Alu elements are implicated in several genetic diseases and cancers. Normally, Alu elements create insertions of ~300bp long that cannot be fully covered by a single sequencing read. SOPHiA DDM™ harnesses the “soft-clipping” signals (mismatched reads) to accurately detect and annotate different types of Alu insertions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eReliable Boland inversion identification\u003c\/strong\u003e – SOPHiA DDM™ supports identification of an inversion of exons 1-7 in the MSH2 gene. This change, known as Boland inversion, is a frequent cause of unexplained Lynch Syndrome. Our probe design enables the amplification of the Boland inversion for reliable detection by SOPHiA DDM™.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eClear PMS2\/PMS2CL visualization\u003c\/strong\u003e – The detection of germline variants in PMS2 is complicated by the presence of pseudogenes. Through a specific gene-conversion add-on, SOPHiA DDM™ shows variants that are PMS2 gene-like or PMS2CL pseudogene-like in highly homologous and polymorphic regions (i.e. exon 11-15 of PMS2 and corresponding exons of PMS2CL).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Our sophisticated SNV and Indel calling technology implements relevant analytical modules tailored to reduce noise linked to sample type, sequencer, and library preparation. In an analysis of 17 blood samples, the SOPHiA DDM™ Hereditary Cancer Solution (HCS) v2.0 achieved 100% sensitivity for SNV and Indel calling, 100% precision for SNV calling, and 98.5% precision for Indel calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. In an analysis of 11 blood samples, the SOPHiA DDM™ HCS v2.0 achieved 100% sensitivity for CNV calling.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Our robust annotation algorithm retrieves information from curated databases and uses de novo predictions to establish the likely effects and pathogenicity of genetic variants. Coupled with SOPHiA DDM™ filtering capabilities, our accurate variant annotation facilitates the identification of relevant variants.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/0ddf7fcc-108b-41ac-9d93-146f09568c66\/0ddf7fcc-108b-41ac-9d93-146f09568c66_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Dx HCS (CE-IVD)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLCGLL01-016\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLCGLL01-032\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLCGLL01-048\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0102ILLCGLL01-096\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eCE-IVD marked product for In Vitro Diagnostic use. Availability and regulatory status may differ by country - please contact us for the product information that applies to your laboratory.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798541848655,"sku":"BS0102ILLCGLL01-016","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798541881423,"sku":"BS0102ILLCGLL01-032","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798541914191,"sku":"BS0102ILLCGLL01-048","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798541946959,"sku":"BS0102ILLCGLL01-096","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-myeloid-solution-mys-bs0103","title":"SOPHiA DDM™ Myeloid Solution (MYS)","description":"\u003cp\u003eSOPHiA DDM™ Myeloid Solution (MYS) covers 30 relevant genes (10 with complete coding sequences) associated with acute myeloid leukemia (AML), myeloid dysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myelomonocytic leukemia (CMML), and related myeloid malignancies. Probe design is optimized to guarantee high on-target rate and coverage uniformity even in GC-rich regions.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e30 genes (10 with complete coding sequences)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eAML, MDS, MPN, CMML and related myeloid malignancies\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eFLT3 ITDs\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood and bone marrow\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e48 on Illumina MiSeq® v3 (2x300bp)\u003cbr\u003e32 on Illumina MiSeq® v3 (2x250bp)\u003cbr\u003e180 on Illumina NextSeq® 500\/550 Mid Output v2 (2x150bp)\u003cbr\u003e540 on Illumina NextSeq® 500\/550 High Output v2 (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e2 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eRaise your analytical capabilities\u003c\/strong\u003e – Streamline your sample to report workflow with SOPHiA DDM™ for Myeloid Malignancies, including a comprehensive range of guideline‑driven, ready‑to‑use, and customizable NGS‑based applications to accurately define genomic profiles associated with myeloid diseases.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eNavigate genomic profiling with ease\u003c\/strong\u003e – Accelerate your myeloid disease analysis with a simple, adaptable and accurate workflow.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccurate variant analysis\u003c\/strong\u003e – Leverage the advanced analytics capabilities of SOPHiA DDM™, powered by AI, to gain deep insights into myeloid malignancies. Our proprietary algorithms enable precise molecular characterization, driving informed data‑driven decisions.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) associated with myeloid malignancies, even in challenging samples. PEPPER™ is a sophisticated algorithm that differentiates true signal from noise, providing you with reliable results to guide decision‑making. Notably, our algorithm enables detection of internal tandem duplications (ITDs) in FLT3 as long as 300 bp.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Gain crucial insights into the genomic alterations driving myeloid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and employs double normalization to identify CNVs with a single‑exon resolution, which may be overlooked by other tools. Additionally, it facilitates the detection of partial tandem duplications in the KMT2A gene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner‑agnostic fusion detection\u003c\/strong\u003e – Assess fusion events from DNA for a large range of fusion partners reaching comprehensive detection of fusion genes relevant to myeloid malignancies. Our proprietary, junction-based algorithm CARDAMOM ensures reliable identification of prevalent fusions, BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN® molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genomic variants in myeloid malignancies with MOKA™. Our robust annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eData‑driven decision support\u003c\/strong\u003e – Match cancer molecular profiles with the latest information to identify actionable biomarker profiles and confidently determine next steps in your research journey with our add‑on module, OncoPortal™ Knowledge Base.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/a40ce502-4f30-48b9-9ad1-27a3f7043213\/a40ce502-4f30-48b9-9ad1-27a3f7043213_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Myeloid Solution (MYS)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103TFSRSML01-032\u003c\/td\u003e\n\u003ctd\u003eThermo Fisher Ion Torrent\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798541979727,"sku":"BS0103ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798542012495,"sku":"BS0103ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798542045263,"sku":"BS0103ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Thermo Fisher Ion Torrent \/ 32 reactions","offer_id":46798542078031,"sku":"BS0103TFSRSML01-032","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-myeloid-plus-solution-mys-bs0112","title":"SOPHiA DDM™ Myeloid Plus Solution (MYS+)","description":"\u003cp\u003eSOPHiA DDM™ Myeloid Plus Solution (MYS+) is the DNA \u0026amp; RNA version of the 30-gene Myeloid Solution: RNA analysis is incorporated to detect 118 known fusion pairs associated with AML, MDS, MPN, CMML and related myeloid malignancies.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e30 genes (DNA) + 118 known fusion pairs (RNA)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eAML, MDS, MPN, CMML and related myeloid malignancies\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eFLT3 ITDs\u003cbr\u003eRNA gene fusions (118 known fusion pairs)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood and bone marrow\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA + 500 ng RNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e3 days (DNA + RNA)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eRaise your analytical capabilities\u003c\/strong\u003e – Streamline your sample to report workflow with SOPHiA DDM™ for Myeloid Malignancies, including a comprehensive range of guideline‑driven, ready‑to‑use, and customizable NGS‑based applications to accurately define genomic profiles associated with myeloid diseases.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eNavigate genomic profiling with ease\u003c\/strong\u003e – Accelerate your myeloid disease analysis with a simple, adaptable and accurate workflow.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccurate variant analysis\u003c\/strong\u003e – Leverage the advanced analytics capabilities of SOPHiA DDM™, powered by AI, to gain deep insights into myeloid malignancies. Our proprietary algorithms enable precise molecular characterization, driving informed data‑driven decisions.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) associated with myeloid malignancies, even in challenging samples. PEPPER™ is a sophisticated algorithm that differentiates true signal from noise, providing you with reliable results to guide decision‑making. Notably, our algorithm enables detection of internal tandem duplications (ITDs) in FLT3 as long as 300 bp.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Gain crucial insights into the genomic alterations driving myeloid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and employs double normalization to identify CNVs with a single‑exon resolution, which may be overlooked by other tools. Additionally, it facilitates the detection of partial tandem duplications in the KMT2A gene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner‑agnostic fusion detection\u003c\/strong\u003e – Assess fusion events from DNA for a large range of fusion partners reaching comprehensive detection of fusion genes relevant to myeloid malignancies. Our proprietary, junction-based algorithm CARDAMOM ensures reliable identification of prevalent fusions, BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN® molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genomic variants in myeloid malignancies with MOKA™. Our robust annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eData‑driven decision support\u003c\/strong\u003e – Match cancer molecular profiles with the latest information to identify actionable biomarker profiles and confidently determine next steps in your research journey with our add‑on module, OncoPortal™ Knowledge Base.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/a40ce502-4f30-48b9-9ad1-27a3f7043213\/a40ce502-4f30-48b9-9ad1-27a3f7043213_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Myeloid Solution (MYS)\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/c2142cce-4d3f-4509-a061-1e62f2523578\/c2142cce-4d3f-4509-a061-1e62f2523578_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ for Myeloid Malignancies – Key Targeted Applications\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0112ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0112ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0112ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0112ILLRSMY10-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798542176335,"sku":"BS0112ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798542209103,"sku":"BS0112ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798542241871,"sku":"BS0112ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798542274639,"sku":"BS0112ILLRSMY10-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-extended-myeloid-solution-extmys-bs2201","title":"SOPHiA DDM™ Extended Myeloid Solution (ExtMYS)","description":"\u003cp\u003eSOPHiA DDM™ Extended Myeloid Solution (ExtMYS) covers 98 relevant genes (complete coding sequences) associated with acute myeloid leukemia (AML), myeloid dysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myelomonocytic leukemia (CMML), and related myeloid malignancies. Probe design is optimized to guarantee high on-target rate and coverage uniformity even in GC-rich regions.\u003c\/p\u003e\u003cp\u003eCapture-based application targeting 98 full genes associated with leukemia, MDS, MPNs, and related disorders. Designed for high-throughput labs seeking broad genomic coverage. Compatible with SOPHiA DDM™ Blood Cancers Plus for RNA-based detection of 118 known fusion pairs.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e98 genes, full CDS\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eAML, MDS, MPN, CMML and related myeloid malignancies\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eFLT3 ITDs\u003cbr\u003eKMT2A PTDs\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood and bone marrow\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina NextSeq®\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e2 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eRaise your analytical capabilities\u003c\/strong\u003e – Streamline your sample to report workflow with SOPHiA DDM™ for Myeloid Malignancies, including a comprehensive range of guideline‑driven, ready‑to‑use, and customizable NGS‑based applications to accurately define genomic profiles associated with myeloid diseases.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eNavigate genomic profiling with ease\u003c\/strong\u003e – Accelerate your myeloid disease analysis with a simple, adaptable and accurate workflow.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccurate variant analysis\u003c\/strong\u003e – Leverage the advanced analytics capabilities of SOPHiA DDM™, powered by AI, to gain deep insights into myeloid malignancies. Our proprietary algorithms enable precise molecular characterization, driving informed data‑driven decisions.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) associated with myeloid malignancies, even in challenging samples. PEPPER™ is a sophisticated algorithm that differentiates true signal from noise, providing you with reliable results to guide decision‑making. Notably, our algorithm enables detection of internal tandem duplications (ITDs) in FLT3 as long as 300 bp.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Gain crucial insights into the genomic alterations driving myeloid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and employs double normalization to identify CNVs with a single‑exon resolution, which may be overlooked by other tools. Additionally, it facilitates the detection of partial tandem duplications in the KMT2A gene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner‑agnostic fusion detection\u003c\/strong\u003e – Assess fusion events from DNA for a large range of fusion partners reaching comprehensive detection of fusion genes relevant to myeloid malignancies. Our proprietary, junction-based algorithm CARDAMOM ensures reliable identification of prevalent fusions, BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN® molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genomic variants in myeloid malignancies with MOKA™. Our robust annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eData‑driven decision support\u003c\/strong\u003e – Match cancer molecular profiles with the latest information to identify actionable biomarker profiles and confidently determine next steps in your research journey with our add‑on module, OncoPortal™ Knowledge Base.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/cefd9b8b-9751-4cb0-b674-cba38fa03e1b\/cefd9b8b-9751-4cb0-b674-cba38fa03e1b_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Extended Myeloid Solution (ExtMYS)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2201ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2201ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2201ILLRSMY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS2201ILLRSMY10-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798542307407,"sku":"BS2201ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798542340175,"sku":"BS2201ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798542372943,"sku":"BS2201ILLRSMY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798542405711,"sku":"BS2201ILLRSMY10-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-extended-myeloid-plus-solution-extmys-bs0118","title":"SOPHiA DDM™ Extended Myeloid Plus Solution (ExtMYS+)","description":"\u003cp\u003eSOPHiA DDM™ Extended Myeloid Plus Solution (ExtMYS+) combines the 98-gene, full-CDS Extended Myeloid DNA panel with an RNA panel calling 118 predefined fusion pairs, for a consolidated DNA + RNA myeloid workflow.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e98 genes, full CDS\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eFusion calling\u003c\/th\u003e\n\u003ctd\u003e118 fusion pairs (predefined fusion partners)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eFLT3 ITDs\u003cbr\u003eKMT2A PTDs\u003cbr\u003eRNA gene fusions\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood and bone marrow\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA + 500 ng RNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina NextSeq®\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e3 days (DNA + RNA)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eRaise your analytical capabilities\u003c\/strong\u003e – Streamline your sample to report workflow with SOPHiA DDM™ for Myeloid Malignancies, including a comprehensive range of guideline‑driven, ready‑to‑use, and customizable NGS‑based applications to accurately define genomic profiles associated with myeloid diseases.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eNavigate genomic profiling with ease\u003c\/strong\u003e – Accelerate your myeloid disease analysis with a simple, adaptable and accurate workflow.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccurate variant analysis\u003c\/strong\u003e – Leverage the advanced analytics capabilities of SOPHiA DDM™, powered by AI, to gain deep insights into myeloid malignancies. Our proprietary algorithms enable precise molecular characterization, driving informed data‑driven decisions.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) associated with myeloid malignancies, even in challenging samples. PEPPER™ is a sophisticated algorithm that differentiates true signal from noise, providing you with reliable results to guide decision‑making. Notably, our algorithm enables detection of internal tandem duplications (ITDs) in FLT3 as long as 300 bp.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Gain crucial insights into the genomic alterations driving myeloid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and employs double normalization to identify CNVs with a single‑exon resolution, which may be overlooked by other tools. Additionally, it facilitates the detection of partial tandem duplications in the KMT2A gene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner‑agnostic fusion detection\u003c\/strong\u003e – Assess fusion events from DNA for a large range of fusion partners reaching comprehensive detection of fusion genes relevant to myeloid malignancies. Our proprietary, junction-based algorithm CARDAMOM ensures reliable identification of prevalent fusions, BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN® molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genomic variants in myeloid malignancies with MOKA™. Our robust annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eData‑driven decision support\u003c\/strong\u003e – Match cancer molecular profiles with the latest information to identify actionable biomarker profiles and confidently determine next steps in your research journey with our add‑on module, OncoPortal™ Knowledge Base.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/cefd9b8b-9751-4cb0-b674-cba38fa03e1b\/cefd9b8b-9751-4cb0-b674-cba38fa03e1b_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Extended Myeloid Solution (ExtMYS)\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/c2142cce-4d3f-4509-a061-1e62f2523578\/c2142cce-4d3f-4509-a061-1e62f2523578_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ for Myeloid Malignancies – Key Targeted Applications\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0118ILLRSML01-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0118ILLRSML01-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0118ILLRSML01-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798542504015,"sku":"BS0118ILLRSML01-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798542536783,"sku":"BS0118ILLRSML01-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798542569551,"sku":"BS0118ILLRSML01-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-dx-myeloid-solution-ce-ivd-bs0103","title":"SOPHiA DDM™ Dx Myeloid Solution (CE-IVD)","description":"\u003cp\u003eSOPHiA DDM™ Dx Myeloid Solution is a CE-IVD application intended to identify variants occurring in 30 genes involved in myeloid neoplasms by targeting specific mutation-prone positions within the genomic sequence, as an aid to healthcare professionals to make a clinical decision related to myeloid neoplasms.\u003c\/p\u003e\u003cp\u003eCE-IVD certified application targeting key mutational hotspots across 30 genes associated with myeloid neoplasms. Optimized for routine clinical workflows to support data-driven therapeutic decisions. An ideal solution for labs seeking an accredited application focused on high-impact variants.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e30 genes, 10 full CDS\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eFusion calling\u003c\/th\u003e\n\u003ctd\u003eNot available\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eFLT3 ITDs\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina MiSeq® (for CE-IVD purposes)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e24 for Illumina® MiSeq™ v3 (2x300bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e\u0026lt; 6 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eCE-IVD\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eRaise your analytical capabilities\u003c\/strong\u003e – Streamline your sample to report workflow with SOPHiA DDM™ for Myeloid Malignancies, including a comprehensive range of guideline‑driven, ready‑to‑use, and customizable NGS‑based applications to accurately define genomic profiles associated with myeloid diseases.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eNavigate genomic profiling with ease\u003c\/strong\u003e – Accelerate your myeloid disease analysis with a simple, adaptable and accurate workflow.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eAccurate variant analysis\u003c\/strong\u003e – Leverage the advanced analytics capabilities of SOPHiA DDM™, powered by AI, to gain deep insights into myeloid malignancies. Our proprietary algorithms enable precise molecular characterization, driving informed data‑driven decisions.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) associated with myeloid malignancies, even in challenging samples. PEPPER™ is a sophisticated algorithm that differentiates true signal from noise, providing you with reliable results to guide decision‑making. Notably, our algorithm enables detection of internal tandem duplications (ITDs) in FLT3 as long as 300 bp.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Gain crucial insights into the genomic alterations driving myeloid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and employs double normalization to identify CNVs with a single‑exon resolution, which may be overlooked by other tools. Additionally, it facilitates the detection of partial tandem duplications in the KMT2A gene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePartner‑agnostic fusion detection\u003c\/strong\u003e – Assess fusion events from DNA for a large range of fusion partners reaching comprehensive detection of fusion genes relevant to myeloid malignancies. Our proprietary, junction-based algorithm CARDAMOM ensures reliable identification of prevalent fusions, BCR::ABL1; RUNX1::RUNX1T1; PML::RARA; CBFB::MYH11.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003ePrecise molecular barcoding\u003c\/strong\u003e – SOPHiA DDM™ enables sensitive detection of relevant variants at low allele frequencies (down to 5% VAF). By incorporating our proprietary CUMIN® molecular barcoding technology into sample preparation and leveraging our bioinformatic expertise, errors introduced during library preparation, target enrichment, or sequencing can be filtered out and true variant alleles identified.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the clinical significance of genomic variants in myeloid malignancies with MOKA™. Our robust annotation algorithm draws from curated databases and uses de novo predictions to assess the likely effects and pathogenicity of variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eData‑driven decision support\u003c\/strong\u003e – Match cancer molecular profiles with the latest information to identify actionable biomarker profiles and confidently determine next steps in your research journey with our add‑on module, OncoPortal™ Knowledge Base.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/3f8be269-1e0f-4294-ac07-b01375702f31\/3f8be269-1e0f-4294-ac07-b01375702f31_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Dx Myeloid Solution (CE-IVD)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103ILLCSML01-016\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103ILLCSML01-032\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103ILLCSML01-048\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0103ILLCSML01-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eCE-IVD marked product for In Vitro Diagnostic use. Availability and regulatory status may differ by country - please contact us for the product information that applies to your laboratory.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798542635087,"sku":"BS0103ILLCSML01-016","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798542667855,"sku":"BS0103ILLCSML01-032","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798542700623,"sku":"BS0103ILLCSML01-048","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798542733391,"sku":"BS0103ILLCSML01-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-community-myeloid-solution-v2-cs2598","title":"SOPHiA DDM™ Community Myeloid Solution v2","description":"\u003cp\u003eTargets variants in 94 full genes and enables partner-agnostic fusion calling across 28 genes from a single DNA-based workflow. Supports detection of SNVs, Indels, CNVs, ITDs, PTDs, and chromosomal aberrations including trisomies, monosomies, and long arm deletions. Ideal for labs looking to maximize their resources and time.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e94 genes, full CDS\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eFusion calling\u003c\/th\u003e\n\u003ctd\u003e28 genes (∞ fusion partners)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eAcute myeloid leukemia (AML)\u003cbr\u003eMyeloid dysplastic syndrome (MDS)\u003cbr\u003eMyeloproliferative neoplasms (MPN)\u003cbr\u003eChronic myelomonocytic leukemia (CMML)\u003cbr\u003eRelated myeloid malignancies\u003cbr\u003eSelected genes for lymphoid malignancies\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eFLT3 ITDs\u003cbr\u003eKMT2A PTDs\u003cbr\u003eDNA gene fusions\u003cbr\u003eChromosomal aberrations\u003cbr\u003eVisual inference of LoH\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood and bone marrow\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina NextSeq®\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eIllumina NextSeq™ 500\/550 (2x150bp):\u003cbr\u003eMid-Output: 10-12 samples\u003cbr\u003eHigh-Output: 32 samples\u003cbr\u003eIllumina NextSeq™ 1000\/2000 (2x150bp):\u003cbr\u003eP1 flow cell: 8 samples\u003cbr\u003eP2 flow cell: 32 samples\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eBuilt to magnify myeloid discovery\u003c\/h2\u003e\u003cp\u003eDetect a broad spectrum of genomic alterations, from single-nucleotide to gene fusions and large structural variants, in a single, streamlined workflow. The SOPHiA DDM™ Community Myeloid Solution combines expertly curated content aligned with ELN, WHO, and NCCN guidelines, and the advanced analytics of the SOPHiA DDM™ Platform to deliver more meaningful myeloid insights, with less hands-on time and greater efficiency.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eExpert-curated content\u003c\/strong\u003e – Adopt a solution tailored to the latest ELN, WHO, and NCCN recommendations, ensuring relevant and meaningful content.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eConsolidated workflow\u003c\/strong\u003e – Accurately detect SNVs, Indels, and CNVs in 94 genes (full CDS), call DNA fusions in 28 genes, detect key chromosomal aberrations, and visually infer loss of heterozygosity (LoH)* in a single streamlined workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eUltra-sensitive variant detection\u003c\/strong\u003e – Identify low-frequency variants with confidence (down to 2% VAF in routine analysis, and lower if needed) thanks to CUMIN® molecular barcoding technology.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Capture CNVs with precision leveraging our adaptive, double-normalization algorithm, MUSKAT™ optimized for myeloid malignancies and designed to minimize false positives while adapting to experimental variability.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eRobust DNA fusion detection\u003c\/strong\u003e – Detect common, novel, and rare fusions directly from DNA and reduce reliance on RNA workflows, thanks to our sensitive, partner-agnostic fusion calling algorithm, CARDAMOM.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eOptimized operational efficiency\u003c\/strong\u003e – Boost efficiency with verified automation scripts for Hamilton NGS STAR and Clinical STARlet platforms, and simplify in-house adoption through the expertly-guided SOPHiA DDM™ MaxCare Program.\u003c\/p\u003e\u003ch2\u003eStreamline your myeloid workflow\u003c\/h2\u003e\u003cp\u003eWhether you perform sequencing in-house or leverage SOPHiA DDM™ Integrated Access Mode to tap into a global network of sequencing labs, you maintain full control over your samples, insights, turnaround, and reanalysis time.\u003c\/p\u003e\u003cp\u003eThinking about bringing sequencing in-house? The SOPHiA DDM™ MaxCare Program ensures a seamless implementation process, with expert support, training, and guidance at every step of the way.\u003c\/p\u003e\u003ch2\u003eUncover chromosomal aberrations\u003c\/h2\u003e\u003cp\u003eDetecting chromosomal aberrations with traditional assays like FISH and karyotyping requires time-consuming steps like cell culturing and staining. While cost-effective, their turnaround times often fall short for time-sensitive research. With the SOPHiA DDM™ Community Myeloid Solution you can now detect complex alterations directly from NGS data. Powered by MUSKAT™, our adaptive, double-normalization CNV calling algorithm, and comprehensive gene coverage, you can visualize copy number changes over key genomic regions linked to myeloid malignancies.\u003c\/p\u003e\u003ch2\u003eCommon high-impact chromosomal aberrations in myeloid malignancies\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTrisomies\u003c\/strong\u003e – Trisomy 8 is one of the most common chromosomal abnormalities in AML. It has been associated with poor prognosis and resistance to certain therapies.¹\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eMonosomies\u003c\/strong\u003e – Monosomy 7 occurs across a broad range of myeloid malignancies and is linked to adverse outcomes in both AML and MDS.²\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eArm-level deletions\u003c\/strong\u003e – del(5q) deletion of the long arm of chromosome 5 — is a frequent copy number alteration in AML. It is strongly associated with poor prognosis and therapy resistance.³\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eBuilt-in intelligence for high-confidence fusion calls\u003c\/strong\u003e – Our fusion calling algorithm, CARDAMOM, enables the highly specific DNA-based detection of fusion events, even when one fusion partner is unknown. This expands the potential to uncover novel or rare fusions often missed by other technologies.\u003c\/p\u003e\u003cp\u003eFusions are only reported when they meet strict probabilistic thresholds and are supported by relevant genomic context, helping reduce false positives and increase confidence in the results.\u003c\/p\u003e\u003cp\u003eFor enhanced precision and relevance, our solution covers both fusion partners for the most relevant, guideline-informed fusions to maximize sensitivity while keeping the potential for discovery high.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003ePowerful insights, intuitive interface\u003c\/strong\u003e – Visualize and interpret complex alterations directly in the new generation of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003eVirtual Panels: Focus on relevant genes using HPO\/OMIM® filters\u003c\/li\u003e\n\u003cli\u003eEnhanced Tertiary Annotation: Streamline variant interpretation with point-based ACMG classification, zygosity annotation, expanded variant catalogs, among other updates\u003c\/li\u003e\n\u003cli\u003eSimplified CNV analysis: Navigate large-scale events with ease\u003c\/li\u003e\n\u003cli\u003eSOPHiA GENETICS™ Community-driven insights: Access collective variant knowledge from global experts\u003c\/li\u003e\n\u003cli\u003eOncoPortal™ Knowledge Base: Match variant profiles to clinical associations and available clinical trials powered by Genomenon Cancer Knowledgebase\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/a268ec2d-376e-4d46-8143-b50de2e7c0bd\/a268ec2d-376e-4d46-8143-b50de2e7c0bd_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Community Myeloid Solution\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/a5845035-4403-40c3-b7cf-5662f51e095a\/a5845035-4403-40c3-b7cf-5662f51e095a_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Community Myeloid Solution\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/c2142cce-4d3f-4509-a061-1e62f2523578\/c2142cce-4d3f-4509-a061-1e62f2523578_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ for Myeloid Malignancies – Key Targeted Applications\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598ILLRSMY13-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598ILLRSMY13-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598ILLRSMY13-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598ILLRSMY13-96\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598MGDRSMY13-16\u003c\/td\u003e\n\u003ctd\u003eMGI (MGD)\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598MGDRSMY13-32\u003c\/td\u003e\n\u003ctd\u003eMGI (MGD)\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598MGDRSMY13-48\u003c\/td\u003e\n\u003ctd\u003eMGI (MGD)\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2598MGDRSMY13-96\u003c\/td\u003e\n\u003ctd\u003eMGI (MGD)\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798542766159,"sku":"CS2598ILLRSMY13-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798542798927,"sku":"CS2598ILLRSMY13-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798542831695,"sku":"CS2598ILLRSMY13-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 96 reactions","offer_id":46798542864463,"sku":"CS2598ILLRSMY13-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI (MGD) \/ 16 reactions","offer_id":46798542897231,"sku":"CS2598MGDRSMY13-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI (MGD) \/ 32 reactions","offer_id":46798542929999,"sku":"CS2598MGDRSMY13-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI (MGD) \/ 48 reactions","offer_id":46798542962767,"sku":"CS2598MGDRSMY13-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI (MGD) \/ 96 reactions","offer_id":46798542995535,"sku":"CS2598MGDRSMY13-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-lymphoma-solution-lys-bs0116","title":"SOPHiA DDM™ Lymphoma Solution (LYS)","description":"\u003cp\u003eThe SOPHiA DDM™ Lymphoma Solution (LYS) is a comprehensive capture-based application designed to detect and analyze genomic alterations on 54 genes associated with various B- and T-cell lymphomas.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e54 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eKey biomarkers\u003c\/th\u003e\n\u003ctd\u003eCREBBP, EP300, EZH2, MEF2B, MYD88, MYC, BRAF\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eB- and T-cell lymphomas such as diffuse large B-cell, follicular, mantle cell, and Burkitt lymphomas\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eGene amplifications (47 genes)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eFFPE, blood, and bone marrow\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e118 Kb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSequencer compatibility\u003c\/th\u003e\n\u003ctd\u003eIllumina MiSeq® and NextSeq®\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e1.5 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e4 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eGain a complete view of Lymphoid Malignancies\u003c\/strong\u003e – Go from sample to report with SOPHiA DDM™ for Lymphoid Malignancies. Leverage our flexible platform that offers a comprehensive range of guideline-driven, ready-to-use, and customizable next-generation sequencing (NGS)-based applications to enhance your genomic profiling capabilities.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eCharting the course to solve lymphoid cases\u003c\/strong\u003e – Streamline your analysis with an accurate and adaptable workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eA wave of insights for every laboratory\u003c\/strong\u003e – Streamline your blood cancer analysis workflow from sample to comprehensive, customized report.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eFlexible and scalable library preparation\u003c\/strong\u003e – Rely on robust sequencing across multiple applications using one universal and automated protocol.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate variant detection and annotation\u003c\/strong\u003e – Precisely detect challenging genomic variants thanks to the power of our proprietary algorithms.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eCustomizable reporting\u003c\/strong\u003e – Quickly prepare comprehensive reports tailored to your needs.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurning data into insights—it’s in our blood\u003c\/strong\u003e – Gain deeper insights into lymphoid malignancies by accurately assessing even the most challenging molecular biomarkers with the advanced power of SOPHiA DDM™'s proprietary algorithms.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – Accurately identify single nucleotide variants (SNVs) and small insertions\/deletions (Indels) in lymphoid malignancies, even in challenging samples. PEPPER™’s sophisticated algorithm differentiate true signal from noise, providing you with reliable results to guide your decisions.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – Gain crucial insights into the genomic alterations driving lymphoid malignancies with MUSKAT™. Our copy number variation (CNV) calling algorithm adapts to experimental conditions and performs double normalization to call CNVs missed by other tools.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – Confidently interpret the significance of genomic variants in lymphoid malignancies with MOKA™. Our robust annotation algorithm draws from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eExplore IGH and IGL rearrangement\u003c\/strong\u003e – SOPHiA GENETICS worked with IDIBAPS to enable IgCaller companion software to be used with SOPHiA DDM™ Community CLL Clonality Solution.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0116ILLRSMY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0116ILLRSMY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798543061071,"sku":"BS0116ILLRSMY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798543093839,"sku":"BS0116ILLRSMY10-32","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-whole-exome-solution-v2-wes-v2-bs0122","title":"SOPHiA DDM™ Whole Exome Solution v2 (WES v2)","description":"\u003cp\u003eSOPHiA DDM™ Whole Exome Solution v2 covers the coding regions of 19,425 genes and the entire mitochondrial genome. Probe design is highly optimized to guarantee a high on-target reads percentage and coverage uniformity even in GC-rich regions, including the first exon.\u003c\/p\u003e\u003cp\u003ePropel your rare disease analysis with whole exome applications that efficiently classify and prioritize variants with algorithms trained with variants flagged by the SOPHiA GENETICS Community.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e19,425 genes + entire mitochondrial genome\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eRare and inherited disorders\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood, Saliva\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e12 for Illumina NextSeq 500\/550 High Output v2 (2x150bp)\u003cbr\u003e12 (per lane) for Illumina NovaSeq® 6000 (SP)\u003cbr\u003e24 (per lane) for Illumina NovaSeq® 6000 (S1)\u003cbr\u003e64 (per lane) for Illumina NovaSeq 6000 (S2)\u003cbr\u003e82 for MGI DNBSEQ-G400, FCL, 1 lane of 4 (2x200)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurning genomic data into life-changing insights\u003c\/strong\u003e – Find answers for individuals with complex phenotypes associated with rare diseases with our comprehensive portfolio of ready-to-use and customizable NGS-based applications. Rapidly pinpoint rare variants with the advanced analytic and interpretation capabilities of the SOPHiA DDM™ Platform complemented by Alamut™ Visual Plus.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpand your rare disease analysis toolbox\u003c\/strong\u003e – Simplify your rare disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eDecoding rare diseases, one variant at a time\u003c\/strong\u003e – Accelerate the identification of clinically relevant variants from the tens of thousands detected with SOPHiA DDM™.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – The sophisticated SNV and Indel calling algorithm, PEPPER™, differentiates true signal from noise specific to each sample type, library preparation, and sequencer, in both nuclear and mitochondrial DNA. The algorithm allows, for instance, the detection of a 4,977 bp-long deletion associated with several inborn disorders, including the Kearns-Sayre Syndrome (KSS).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – The proprietary copy number variation (CNV) calling algorithm, MUSKAT™, adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. The pseudogene conversion module accurately assigns variants in genes such as PMS2\/PMS2CL, SMNA1\/SMNA2, CXP2D6\/CYP2D7, and PKD1 to the active gene or inactive pseudogene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eEfficient star allele calling\u003c\/strong\u003e – The accurate star allele calling algorithm, STAR ANISE, leverages the PharmVar database to resolve star allele haplotypes, providing metabolizer status annotations that confidently link genotypes to phenotypes. A specialized CYP2D6 analytical module calls star alleles alongside CNVs, SNVs, Indels, and gene conversion with the CYP2D7 pseudogene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – The robust variant annotation algorithm, MOKA™, retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSmart variant prioritization\u003c\/strong\u003e – ABCD Pathogenicity Prediction The elegant ABCD variant prioritization approach leverages an AI-driven, community-powered variant classification algorithm to rank variants according to likelihood of pathogenicity.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIntegrated mitochondrial variant detection\u003c\/strong\u003e – In a single workflow, SOPHiA DDM™ pinpoints variants in mitochondrial DNA alongside those in key coding and non-coding regions of nuclear DNA. Sophisticated algorithms address the unique challenges associated with the mitochondrial genome, like high mtDNA copy number and heteroplasmy, to deliver precise variant insights.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/5f94a648-efb8-491c-aac8-f8710c2ebf68\/5f94a648-efb8-491c-aac8-f8710c2ebf68_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Whole Exome Solution v2 (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122MGIRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122MGIRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122MGIRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122MGIRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122MGIRGLY10-384\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ELBRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eElement Biosciences\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ELBRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eElement Biosciences\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ELBRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eElement Biosciences\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ELBRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eElement Biosciences\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122ELBRGLY10-384\u003c\/td\u003e\n\u003ctd\u003eElement Biosciences\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122GEMRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eGeneMind\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122GEMRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eGeneMind\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122GEMRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eGeneMind\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0122GEMRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eGeneMind\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798543224911,"sku":"BS0122ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798543257679,"sku":"BS0122ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798543290447,"sku":"BS0122ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 96 reactions","offer_id":46798543323215,"sku":"BS0122ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 16 reactions","offer_id":46798543355983,"sku":"BS0122MGIRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798543388751,"sku":"BS0122MGIRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798543421519,"sku":"BS0122MGIRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 96 reactions","offer_id":46798543454287,"sku":"BS0122MGIRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 384 reactions","offer_id":46798543487055,"sku":"BS0122MGIRGLY10-384","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Element Biosciences \/ 16 reactions","offer_id":46798543519823,"sku":"BS0122ELBRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Element Biosciences \/ 32 reactions","offer_id":46798543552591,"sku":"BS0122ELBRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Element Biosciences \/ 48 reactions","offer_id":46798543585359,"sku":"BS0122ELBRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Element Biosciences \/ 96 reactions","offer_id":46798543618127,"sku":"BS0122ELBRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Element Biosciences \/ 384 reactions","offer_id":46798543650895,"sku":"BS0122ELBRGLY10-384","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"GeneMind \/ 16 reactions","offer_id":46798543683663,"sku":"BS0122GEMRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"GeneMind \/ 32 reactions","offer_id":46798543716431,"sku":"BS0122GEMRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"GeneMind \/ 48 reactions","offer_id":46798543749199,"sku":"BS0122GEMRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"GeneMind \/ 96 reactions","offer_id":46798543781967,"sku":"BS0122GEMRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-clinical-exome-solution-v3-ces-v3-bs0120","title":"SOPHiA DDM™ Clinical Exome Solution v3 (CES v3)","description":"\u003cp\u003eSOPHiA DDM™ Clinical Exome Solution v3 covers the coding regions (±5bp of intronic regions) of 6,380 genes, the entire mitochondrial genome and non-coding variants known to be associated with rare and inherited disorders (probe footprint of ~16 Mb). Probe design is highly optimized to guarantee high on-target reads percentage and coverage uniformity even in GC-rich regions, including the first exon.\u003c\/p\u003e\u003cp\u003eEnlighten your rare disease journey with clinical exome solutions that detect complex variants with proprietary AI-driven algorithms that accurately distinguish the signal from noise.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e6,380 genes + entire mitochondrial genome (probe footprint ~16 Mb)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eRare and inherited disorders\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e16 for Illumina NextSeq® 500\/550 Mid Output v2 (2x150bp)\u003cbr\u003e48 for Illumina NextSeq® 500\/550 High Output v2 (2x150bp)\u003cbr\u003e48 (per lane) for Illumina NovaSeq® 6000 (SP)\u003cbr\u003e96 (per lane) for Illumina NovaSeq® 6000 (S1)\u003cbr\u003e4 for Illumina MiSeq® v3 (300bp)\u003cbr\u003e48 for MGI DNBSEQ-G400, FCL, 1 lane of 4 (2x200)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurning genomic data into life-changing insights\u003c\/strong\u003e – Find answers for individuals with complex phenotypes associated with rare diseases with our comprehensive portfolio of ready-to-use and customizable NGS-based applications. Rapidly pinpoint rare variants with the advanced analytic and interpretation capabilities of the SOPHiA DDM™ Platform complemented by Alamut™ Visual Plus.\u003c\/p\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eExpand your rare disease analysis toolbox\u003c\/strong\u003e – Simplify your rare disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eDecoding rare diseases, one variant at a time\u003c\/strong\u003e – Accelerate the identification of clinically relevant variants from the tens of thousands detected with SOPHiA DDM™.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – The sophisticated SNV and Indel calling algorithm, PEPPER™, differentiates true signal from noise specific to each sample type, library preparation, and sequencer, in both nuclear and mitochondrial DNA. The algorithm allows, for instance, the detection of a 4,977 bp-long deletion associated with several inborn disorders, including the Kearns-Sayre Syndrome (KSS).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – The proprietary copy number variation (CNV) calling algorithm, MUSKAT™, adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. The pseudogene conversion module accurately assigns variants in genes such as PMS2\/PMS2CL, SMNA1\/SMNA2, CXP2D6\/CYP2D7, and PKD1 to the active gene or inactive pseudogene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eEfficient star allele calling\u003c\/strong\u003e – The accurate star allele calling algorithm, STAR ANISE, leverages the PharmVar database to resolve star allele haplotypes, providing metabolizer status annotations that confidently link genotypes to phenotypes. A specialized CYP2D6 analytical module calls star alleles alongside CNVs, SNVs, Indels, and gene conversion with the CYP2D7 pseudogene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – The robust variant annotation algorithm, MOKA™, retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSmart variant prioritization\u003c\/strong\u003e – ABCD Pathogenicity Prediction The elegant ABCD variant prioritization approach leverages an AI-driven, community-powered variant classification algorithm to rank variants according to likelihood of pathogenicity.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eIntegrated mitochondrial variant detection\u003c\/strong\u003e – In a single workflow, SOPHiA DDM™ pinpoints variants in mitochondrial DNA alongside those in key coding and non-coding regions of nuclear DNA. Sophisticated algorithms address the unique challenges associated with the mitochondrial genome, like high mtDNA copy number and heteroplasmy, to deliver precise variant insights.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/cb93a09c-226c-4e13-9d26-2aa90fca9aae\/cb93a09c-226c-4e13-9d26-2aa90fca9aae_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Clinical Exome Solution v3 (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eSequencer\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eIllumina\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120MGIRGLY10-16\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120MGIRGLY10-32\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120MGIRGLY10-48\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120MGIRGLY10-96\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0120MGIRGLY10-384\u003c\/td\u003e\n\u003ctd\u003eMGI\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"Illumina \/ 16 reactions","offer_id":46798543814735,"sku":"BS0120ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 32 reactions","offer_id":46798543847503,"sku":"BS0120ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"Illumina \/ 48 reactions","offer_id":46798543880271,"sku":"BS0120ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 16 reactions","offer_id":46798543913039,"sku":"BS0120MGIRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 32 reactions","offer_id":46798543945807,"sku":"BS0120MGIRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 48 reactions","offer_id":46798543978575,"sku":"BS0120MGIRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 96 reactions","offer_id":46798544011343,"sku":"BS0120MGIRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"MGI \/ 384 reactions","offer_id":46798544044111,"sku":"BS0120MGIRGLY10-384","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-enhanced-whole-exome-solution-bs0141","title":"SOPHiA DDM™ Enhanced Whole Exome Solution","description":"\u003cp\u003eSOPHiA DDM™ Enhanced Whole Exome Solution fully covers the coding regions (±5bp of intronic regions) of 20,072 genes, the entire mitochondrial genome, and non- coding variants known to be associated with rare and inherited disorders. The hereditary cancer, carrier screening, and pharmacogenomics enhancements boost coverage of 94, 155, and 74 genes, respectively.\u003c\/p\u003e\u003cp\u003eDetect challenging variants across multiple indications with one comprehensive application that eliminates the need for multiple targeted tests.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e20,072 genes\u003cbr\u003eMitochondrial genome\u003cbr\u003e\u0026gt;1,750 non-coding variants with known pathogenicity\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eHereditary cancer enhancement\u003c\/th\u003e\n\u003ctd\u003e140 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003ePharmacogenomics enhancement\u003c\/th\u003e\n\u003ctd\u003e74 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eCarrier screening enhancement\u003c\/th\u003e\n\u003ctd\u003e155 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eGeneral: SNVs, Indels, CNVs, mitochondrial variants, Alu insertions, star alleles\u003cbr\u003eSpecific: Large deletions in HBA1\/HBA2, gene\/pseudogene analysis (CYP21A2, CYP2D6, GBA, HBA1, PMS2, SMN1, TNXB), Boland inversions, CFTR repeat regions\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood, saliva\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e~43 Mb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eNextSeq® 550, high-output – 8\u003cbr\u003eNextSeq® 1000\/2000, P2\/P3\/P4 XLEAP – 8\/24\/36\u003cbr\u003eNovaSeq™ S2\/S4 – 36\/48\u003cbr\u003eNovaSeq™ X 1.5B\/10B – 32\/192\u003cbr\u003eMGI DNBSEQ-T7 – 120\u003cbr\u003eElement AVITI, high-output – 16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e2 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eBoost laboratory efficiency without compromising quality\u003c\/h2\u003e\u003cp\u003eDetect challenging variants across multiple indications with one comprehensive application that eliminates the need for multiple targeted tests. Reduce hands-on time, lower costs, and future-proof your genomic analysis with a single streamlined workflow.\u003c\/p\u003e\u003cp\u003eSOPHiA DDM™ Enhanced Exome Solutions combine a trusted exome backbone with targeted probe and analytical enhancements to increase sensitivity and enable complex variant detection. One efficient workflow supports carrier screening, pharmacogenomics, and hereditary cancer applications.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eConsolidated workflows\u003c\/strong\u003e – Reduce hands-on time by eliminating send-outs and covering carrier screening, PGx, and hereditary cancer indications in a single workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eFutureproofed genomic analysis\u003c\/strong\u003e – Avoid panel re-design iterations and enable reflex testing by simply editing gene lists through virtual panels.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eChallenging variant detection\u003c\/strong\u003e – Utilize dedicated algorithms to detect variants such as CNVs, Alu insertions, star alleles, gene\/pseudogene pairs, and Boland inversions.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAdvanced analytical performance\u003c\/strong\u003e – Leverage extensive expertise in probe design and data science to achieve the same sensitivity as targeted panels with this comprehensive application.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eStreamlined variant interpretation\u003c\/strong\u003e – Quickly interpret results with extensive variant annotation complemented by time-saving prioritization, filtering, and visualization.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eJoin the SOPHiA DDM™ Community\u003c\/strong\u003e – Benefit from indication-specific community knowledge-sharing for more informed variant interpretation while retaining control of your data.\u003c\/p\u003e\u003ch2\u003eStreamline your variant detection and analysis workflow\u003c\/h2\u003e\u003cp\u003eBoost lab efficiency with a single streamlined end-to-end NGS workflow. Perform next-generation sequencing in house, or leverage SOPHiA DDM ™ Integrated Access Mode to tap into a global network of sequencing labs. All variant detection and interpretation steps are powered by the SOPHiA DDM™ Platform, giving you full control over your data and samples.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eYour exome, your way\u003c\/strong\u003e – Add targeted probe and analytical enhancements to standard SOPHiA DDM™ Exome Solutions to create the Enhanced Exome Solution that meets the specific needs of your institution.\u003c\/p\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/073477e7-a035-408a-a4a2-9c3a99eb44d6\/073477e7-a035-408a-a4a2-9c3a99eb44d6_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: Enhanced Whole Exome Fact Sheet\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/4fe22b5c-de6c-49f8-9ad7-eb204273d27c\/4fe22b5c-de6c-49f8-9ad7-eb204273d27c_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Exome Solutions\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0141ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0141ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0141ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0141ILLRGLX10-384\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"32 reactions","offer_id":46798544339023,"sku":"BS0141ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798544371791,"sku":"BS0141ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798544404559,"sku":"BS0141ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"384 reactions","offer_id":46798544437327,"sku":"BS0141ILLRGLX10-384","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-extended-cardio-solution-bs0117","title":"SOPHiA DDM™ Extended Cardio Solution","description":"\u003cp\u003eSOPHiA DDM™ Extended Cardio Solution covers the complete coding sequence (± 5bp of exon-flanking regions) of 128 genes (target region of 470 kb) associated with arrhythmias (e.g. long\/short QT syndrome or Brugada syndrome) and\/or cardiomyopathies.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e128 genes (target region 470 kb)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eArrhythmias (long\/short QT, Brugada syndrome) and cardiomyopathies\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e8 for Illumina MiniSeq™ High Output Kit (2x150bp)\u003cbr\u003e12 for Illumina MiSeq® v3 (2x300bp)\u003cbr\u003e48 for Illumina NextSeq® 500\/550 Mid Output Kit v2 (2x125bp)\u003cbr\u003e96 for Illumina NextSeq® 500\/550 High Output Kit v3 (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eAnalysis time from FASTQ\u003c\/th\u003e\n\u003ctd\u003e4 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eUnlock endless possibilities with one platform\u003c\/strong\u003e – Streamline setup and quickly find answers for individuals with genetically inherited diseases with SOPHiA DDM ™ end-to-end workflows. Accurately assess complex variants with a range of ready-to-use and customizable NGS-based applications and community solutions developed and tested by genomic experts.\u003c\/p\u003e\u003cul\u003e\u003cli\u003e\n\u003cstrong\u003eConfidence through collaboration\u003c\/strong\u003e – SOPHiA DDM™ Peer Networks bring experts together across laboratories to share variant interpretations, delivering greater confidence and consistency in complex inherited disorder cases. For Dr. Gilles Millat, SOPHiA DDM™ enables rapid end-to-end case analysis and seamless expertise sharing, strengthening variant classification and informing care for inherited cardiac pathologies.\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurn raw genomic data into pivotal insights\u003c\/strong\u003e – Simplify your inherited disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eChart a course through complex genomic data\u003c\/strong\u003e – Propel the identification of variants linked to genetically inherited diseases with the chemistry and technology-agnostic SOPHiA DDM ™ Platform. Leverage AI-driven algorithms and the shared knowledge within the SOPHiA GENETICS community, while also joining disease-specific peer networks to generate collective insights.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – The sophisticated SNV and Indel calling algorithm, PEPPER ™, differentiates true signal from noise specific to each sample type, library prep chemistry, and sequencer. The algorithm allows, for instance, the detection of a 4,977 bp-long deletion associated with several inborn disorders, including the Kearns-Sayre Syndrome (KSS).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – The proprietary copy number variation (CNV) calling algorithm, MUSKAT ™, adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. The algorithm accurately detects CNVs across challenging genes like DMD.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eEfficient star allele calling\u003c\/strong\u003e – The accurate star allele calling algorithm, STAR ANISE, leverages the PharmVar database to resolve star allele haplotypes, providing metabolizer status annotations that confidently link genotypes to phenotypes. A specialized CYP2D6 analytical module calls star alleles alongside CNVs, SNVs, Indels, and gene conversion with the CYP2D7 pseudogene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – The robust variant annotation algorithm, MOKA ™, retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSmart variant prioritization\u003c\/strong\u003e – ABCD Pathogenicity Prediction The elegant ABCD variant prioritization approach leverages an AI-driven, community-powered variant classification algorithm to rank variants according to likelihood of pathogenicity.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/4db95afb-b692-412f-a5e3-e3c0f8f44299\/4db95afb-b692-412f-a5e3-e3c0f8f44299_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Extended Cardio Solution (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0117ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0117ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0117ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0117ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798544535631,"sku":"BS0117ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798544568399,"sku":"BS0117ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798544601167,"sku":"BS0117ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798544633935,"sku":"BS0117ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-enhanced-clinical-exome-solution-bs0130","title":"SOPHiA DDM™ Enhanced Clinical Exome Solution","description":"\u003cp\u003eSOPHiA DDM™ Enhanced Clinical Exome Solution covers the coding regions (±5bp of intronic regions) of 6,398 genes, the entire mitochondrial genome and non-coding variants known to be associated with rare and inherited disorders, with optional hereditary cancer, pharmacogenomics and carrier screening enhancements in the same workflow.\u003c\/p\u003e\u003cp\u003eDetect challenging variants across multiple indications with one comprehensive application that eliminates the need for multiple targeted tests.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e6,398 genes\u003cbr\u003eMitochondrial genome\u003cbr\u003e~200 non-coding variants with known pathogenicity\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eHereditary cancer enhancement\u003c\/th\u003e\n\u003ctd\u003e140 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003ePharmacogenomics enhancement\u003c\/th\u003e\n\u003ctd\u003e74 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eCarrier screening enhancement\u003c\/th\u003e\n\u003ctd\u003e155 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eGeneral: SNVs, Indels, CNVs, mitochondrial variants, Alu insertions, star alleles\u003cbr\u003eSpecific: Large deletions in HBA1\/HBA2, gene\/pseudogene analysis (CYP21A2, CYP2D6, GBA, HBA1, PMS2, SMN1, TNXB), Boland inversions, CFTR repeat regions\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood, saliva\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e~16.5 Mb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eNextSeq® 550, mid\/high-output – 8\/24\u003cbr\u003eNextSeq® 1000\/2000, P2\/P4 XLEAP – 24\/120\u003cbr\u003eNovaSeq™ S2\/S4 – 120\/144\u003cbr\u003eNovaSeq™ X 1.5B\/10B – 96\/384\u003cbr\u003eMGI DNBSEQ-T7 – 384\u003cbr\u003eElement AVITI, high-output – 60\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e2 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eBoost laboratory efficiency without compromising quality\u003c\/h2\u003e\u003cp\u003eDetect challenging variants across multiple indications with one comprehensive application that eliminates the need for multiple targeted tests. Reduce hands-on time, lower costs, and future-proof your genomic analysis with a single streamlined workflow.\u003c\/p\u003e\u003cp\u003eSOPHiA DDM™ Enhanced Exome Solutions combine a trusted exome backbone with targeted probe and analytical enhancements to increase sensitivity and enable complex variant detection. One efficient workflow supports carrier screening, pharmacogenomics, and hereditary cancer applications.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eConsolidated workflows\u003c\/strong\u003e – Reduce hands-on time by eliminating send-outs and covering carrier screening, PGx, and hereditary cancer indications in a single workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eFutureproofed genomic analysis\u003c\/strong\u003e – Avoid panel re-design iterations and enable reflex testing by simply editing gene lists through virtual panels.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eChallenging variant detection\u003c\/strong\u003e – Utilize dedicated algorithms to detect variants such as CNVs, Alu insertions, star alleles, gene\/pseudogene pairs, and Boland inversions.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAdvanced analytical performance\u003c\/strong\u003e – Leverage extensive expertise in probe design and data science to achieve the same sensitivity as targeted panels with this comprehensive application.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eStreamlined variant interpretation\u003c\/strong\u003e – Quickly interpret results with extensive variant annotation complemented by time-saving prioritization, filtering, and visualization.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eJoin the SOPHiA DDM™ Community\u003c\/strong\u003e – Benefit from indication-specific community knowledge-sharing for more informed variant interpretation while retaining control of your data.\u003c\/p\u003e\u003ch2\u003eStreamline your variant detection and analysis workflow\u003c\/h2\u003e\u003cp\u003eBoost lab efficiency with a single streamlined end-to-end NGS workflow. Perform next-generation sequencing in house, or leverage SOPHiA DDM ™ Integrated Access Mode to tap into a global network of sequencing labs. All variant detection and interpretation steps are powered by the SOPHiA DDM™ Platform, giving you full control over your data and samples.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eYour exome, your way\u003c\/strong\u003e – Add targeted probe and analytical enhancements to standard SOPHiA DDM™ Exome Solutions to create the Enhanced Exome Solution that meets the specific needs of your institution.\u003c\/p\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/821804da-fa0b-4a0b-9218-5e6637ba1bed\/821804da-fa0b-4a0b-9218-5e6637ba1bed_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: Enhanced Clinical Exome Fact Sheet\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/4fe22b5c-de6c-49f8-9ad7-eb204273d27c\/4fe22b5c-de6c-49f8-9ad7-eb204273d27c_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Exome Solutions\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLX10-384\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"32 reactions","offer_id":46798544666703,"sku":"BS0130ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798544699471,"sku":"BS0130ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798544732239,"sku":"BS0130ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"384 reactions","offer_id":46798544765007,"sku":"BS0130ILLRGLX10-384","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-nephropathies-solution-bs0110","title":"SOPHiA DDM™ Nephropathies Solution","description":"\u003cp\u003eSOPHiA DDM™ Nephropathies Solution covers the complete coding sequence (± 5bp of exon-flanking regions) of 44 genes (target region of 105.8 kb) related to a broad range of nephropathies such as nephrotic syndromes, polycystic kidney disorders, Bartter syndromes, Alport syndrome, CAKUT and tubulopathies.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e44 genes (target region 105.8 kb)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eNephrotic syndromes, polycystic kidney disorders, Bartter and Alport syndromes, CAKUT, tubulopathies\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eGene conversion and pseudogene variants in PKD1\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e32 for Illumina MiSeq® v3 (2x300bp)\u003cbr\u003e24 for Illumina MiSeq® v2 (2x250bp)\u003cbr\u003e96 for Illumina NextSeq® 500\/550 Mid Output Kit v2 (2x125bp) and High Output Kit v2 (2x150bp)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eUnlock endless possibilities with one platform\u003c\/strong\u003e – Streamline setup and quickly find answers for individuals with genetically inherited diseases with SOPHiA DDM ™ end-to-end workflows. Accurately assess complex variants with a range of ready-to-use and customizable NGS-based applications and community solutions developed and tested by genomic experts.\u003c\/p\u003e\u003cul\u003e\u003cli\u003e\n\u003cstrong\u003eConfidence through collaboration\u003c\/strong\u003e – SOPHiA DDM™ Peer Networks bring experts together across laboratories to share variant interpretations, delivering greater confidence and consistency in complex inherited disorder cases. For Dr. Gilles Millat, SOPHiA DDM™ enables rapid end-to-end case analysis and seamless expertise sharing, strengthening variant classification and informing care for inherited cardiac pathologies.\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurn raw genomic data into pivotal insights\u003c\/strong\u003e – Simplify your inherited disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eChart a course through complex genomic data\u003c\/strong\u003e – Propel the identification of variants linked to genetically inherited diseases with the chemistry and technology-agnostic SOPHiA DDM ™ Platform. Leverage AI-driven algorithms and the shared knowledge within the SOPHiA GENETICS community, while also joining disease-specific peer networks to generate collective insights.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – The sophisticated SNV and Indel calling algorithm, PEPPER ™, differentiates true signal from noise specific to each sample type, library prep chemistry, and sequencer. The algorithm allows, for instance, the detection of a 4,977 bp-long deletion associated with several inborn disorders, including the Kearns-Sayre Syndrome (KSS).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – The proprietary copy number variation (CNV) calling algorithm, MUSKAT ™, adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. The algorithm accurately detects CNVs across challenging genes like DMD.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eEfficient star allele calling\u003c\/strong\u003e – The accurate star allele calling algorithm, STAR ANISE, leverages the PharmVar database to resolve star allele haplotypes, providing metabolizer status annotations that confidently link genotypes to phenotypes. A specialized CYP2D6 analytical module calls star alleles alongside CNVs, SNVs, Indels, and gene conversion with the CYP2D7 pseudogene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – The robust variant annotation algorithm, MOKA ™, retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSmart variant prioritization\u003c\/strong\u003e – ABCD Pathogenicity Prediction The elegant ABCD variant prioritization approach leverages an AI-driven, community-powered variant classification algorithm to rank variants according to likelihood of pathogenicity.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/438fdcbe-e177-4fe6-863a-f0c9b190fa8b\/438fdcbe-e177-4fe6-863a-f0c9b190fa8b_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Nephropathies Solution (RUO)\u003c\/a\u003e\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0110ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0110ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0110ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798544863311,"sku":"BS0110ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798544896079,"sku":"BS0110ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798544928847,"sku":"BS0110ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"},{"product_id":"sophia-ddm-community-extended-pharmacogenomics-solution-extpgx-cs2587","title":"SOPHiA DDM™ Community Extended Pharmacogenomics Solution (ExtPGx)","description":"\u003cp\u003eSOPHiA DDM™ Community Extended Pharmacogenomics Solution combines a capture-based target enrichment kit with the analytical capabilities of the SOPHiA DDM™ Platform, covering 74 genes including a pseudogene, HLA and mtDNA, with star-allele calling.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e74 genes including a pseudogene, HLA, and mtDNA coverage\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eOncology, cardiovascular diseases, psychiatric disorders, pain management, infectious diseases, epilepsy, gastrointestinal diseases\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs, Indels, CNVs, star alleles (15 genes), CYP2D6\/CYP2D7 gene conversion\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e260 kb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e12, 24, and 48 for Illumina Miseq™ i100 25M, 50M, and 100M flowcell\u003cbr\u003e12 for Illumina MiSeq® v3\u003cbr\u003e48 and 192 for Illumina NextSeq™ 500\/550 Mid- and High-Output Kits\u003cbr\u003e48, 192, 576, and 864 for Illumina NextSeq™ 1000\/2000 P1, P2, P3, and P4\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eReads per sample\u003c\/th\u003e\n\u003ctd\u003e4 million\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary prep and capture hands-on time + FASTQ analysis time\u003c\/th\u003e\n\u003ctd\u003e5 hours + 3 hours\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eEmbrace the next generation of pharmacogenomic analysis\u003c\/h2\u003e\u003cp\u003eUnlock the future of precision medicine with cutting-edge SOPHiA DDM ™ technology powering NGS workflows, delivering unparalleled accuracy and ease.\u003c\/p\u003e\u003cp\u003eOur pharmacogenomics applications were developed in collaboration with leading PGx experts to encompass CPIC and FDA recommendations. They quickly and accurately identify PGx-associated genomic variants of clinical significance, powered by the advanced analytics of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAccurate CNV detection\u003c\/strong\u003e – CNVs are accurately detected by our MUSKAT ™ algorithm alongside SNVs and Indels in a single experiment capable of detecting known and previously undetected variants.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eA universal, scalable solution\u003c\/strong\u003e – Our decentralized, technology-agnostic application is compatible with a broad spectrum of laboratory equipment such as liquid handlers for automated library prep.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eEfficient star allele calling\u003c\/strong\u003e – Major haplotypes (star alleles) for VIP genes according to PharmVar and PharmGKB are assigned and annotated with phenotypic consequences by our AI agent, STAR ANISE.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eComprehensive output files\u003c\/strong\u003e – Pharmacogenomics-specific output files include the full variant table, star allele results, phenotype information, quality metrics, alignment, and genotyping of selected variants in the Sample Check ID file.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eRobust CYP2D6 assessment\u003c\/strong\u003e – CNVs, star alleles, and promoters\/UTRs in CYP2D6 are accurately called, including information for CYP2D6\/CYP2D7 pseudogene analysis.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAdvanced analytical performance\u003c\/strong\u003e – Extensive expertise in probe design and data science ensures high sensitivity, specificity, on-target rates, and coverage uniformity.\u003c\/p\u003e\u003ch2\u003eStreamline your PGx variant detection and analysis workflow\u003c\/h2\u003e\u003cp\u003eBoost lab efficiency with an end-to-end pharmacogenomics NGS workflow. Perform next-generation sequencing in house, or leverage SOPHiA DDM ™ Integrated Access Mode to tap into a global network of sequencing labs. All variant detection and interpretation steps are powered by the SOPHiA DDM ™ Platform, giving you full control over your data and samples.\u003c\/p\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/70155006-29db-4a60-a836-f297cf112e2a\/70155006-29db-4a60-a836-f297cf112e2a_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: Community ExtPGx Solution Fact Sheet\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/aacbc71a-f91b-4d1c-9e50-525bef54d587\/aacbc71a-f91b-4d1c-9e50-525bef54d587_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Pharmacogenomic Solutions\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2587ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2587ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2587ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eCS2587ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"16 reactions","offer_id":46798544961615,"sku":"CS2587ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798544994383,"sku":"CS2587ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798545027151,"sku":"CS2587ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798545059919,"sku":"CS2587ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266"}],"url":"https:\/\/www.danyel.co.il\/collections\/sophia-genetics.oembed","provider":"danyel biotech","version":"1.0","type":"link"}