SOPHiA DDM™ Whole Exome Solution v2 (WES v2)

SOPHiA 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.

Propel 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.

Sample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.

Specifications

Key Features

Turning genomic data into life-changing insights – 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.

Workflow

Expand your rare disease analysis toolbox – Simplify your rare disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.

Analytics

Decoding rare diseases, one variant at a time – Accelerate the identification of clinically relevant variants from the tens of thousands detected with SOPHiA DDM™.

• Sensitive SNV and Indel detection – 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).
• Accurate CNV calling – 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.
• Efficient star allele calling – 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.
• Robust variant annotation – 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.
• Smart variant prioritization – 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.
• Integrated mitochondrial variant detection – 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.

Documents

• Fact Sheet: SOPHiA DDM™ Whole Exome Solution v2 (RUO)

Ordering Information

For Research Use Only. Not for use in diagnostic procedures.