{"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","url":"https:\/\/www.danyel.co.il\/products\/sophia-ddm-homologous-recombination-deficiency-hrd-solution-bs0127","provider":"danyel biotech","version":"1.0","type":"link"}