{"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","url":"https:\/\/www.danyel.co.il\/products\/sophia-ddm-clinical-exome-solution-v3-ces-v3-bs0120","provider":"danyel biotech","version":"1.0","type":"link"}