SOPHiA DDM™ Clinical Exome Solution v3 (CES v3)

SOPHiA 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.

Enlighten your rare disease journey with clinical exome solutions that detect complex variants with proprietary AI-driven algorithms that accurately distinguish the signal from noise.

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™ Clinical Exome Solution v3 (RUO)

Ordering Information

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