{"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. 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