{"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","url":"https:\/\/www.danyel.co.il\/products\/sophia-ddm-hereditary-cancer-solution-v1-1-hcs-v1-1-bs0102","provider":"danyel biotech","version":"1.0","type":"link"}