SOPHiA Clinical Exome Solution v3

From data to insights to confident care

With new and improved probe design, rare and inherited disorder analyses benefit from increased detection capabilities within the entire mitochondrial genome, as well as non-coding variants known to be disorder-causing, for a deeper investigation of Mendelian disorders.

SOPHiA Clinical Exome Solution v3 offers a streamlined end-to-end workflow (from sample to variant report), that streamlines and facilitates the assessment of challenging Mendelian disorders, freeing up time and resources. The solution bundles a capture-based target enrichment kit with the analytical capabilities and interpretation-support functionalities of SOPHiA DDM™ platform, offering deep coverage of the target regions and accurate analysis of multiple type of variants (SNVs, Indels and CNVs) in one unique experiment. As a result, we help you efficiently find the pathogenic needle in the big data haystack, and improving turnaround time.

Accurate variant calling including CNV detection in 97% of genes and annotation powered by GRCh38/hg38 based analytics
Streamlined variant interpretation thanks to the SOPHiA DDM™ platform-integrated prioritization and filtering features, including trio analyses to analyze variants by inheritance mode, and access to updated and trusted databases, such as OMIM and HPO
Ready-to-sequence target enriched library in just 1.5 days
Expertly designed panel with 4,728 genes, including the entire mitochondrial genome and ~ 200 non-coding variants with known pathogenicity in deep introns/enhancer/promoter genes
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Product Details

Dedicated features to ease variant interpretation

The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline the interpretation process and help you greatly reduce turnaround time.

  • Dual Variant Pre-classification to improve assessment of variants pathogenicity based on both ACMG scores and our machine learning-based predictions
  • Virtual Panel to restrict the interpretation to sub-panels of genes using the HPO or OMIM browser
  • Cascading Filters to apply custom filtering options for quicker screening of relevant variants and save strategies for future analyses
  • Familial Variant Analysis to quickly identify causative variants by selecting different inheritance modes with a single mouse click to shorten the candidate variant list accordingly

Through SOPHiA DDM™, you can also have access to Alamut Visual Plus, a full-genome browser that integrates numerous curated genomic and literature databases, guidelines, missense and slicing predictors, thus enabling a deeper variant exploration.

Data pooling and knowledge sharing

Full coverage of the mitochondrial genome coupled with sensitive variant calling

The probe design is highly optimized to guarantee high on-target reads percentage and coverage uniformity even in GC-rich regions, including the first exon. With SOPHiA Clinical Exome Solution v3, you get full mitochondrial genome variant detection, including non-coding variants, now in 280 genomic locations. Additionally, with improved analytical performance, you can reach more than 90% analytical sensitivity for CNV detection*.

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Specifications

Attribute Content
Diseases covered Rare and inherited disorders
No. of genes covered 4,728
Entire mitochondrial genome
~ 200 non-coding variants with known pathogenicity in deep introns/enhancer/promoter genes
Target region size 16 Mb
Sample type Blood
DNA input amount 200 ng
Sequencer compatibility
  • Illumina NovaSeq® 6000
  • NextSeq® 500/550
Library prep time 1.5 days
Analysis time from FASTQ Overnight
Detected variants
  • SNVs
  • Indels
  • CNVs
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Resources

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Footnotes

(*Data on file. Results may vary. Sensitivity of CNV detection in two consecutive regions (exons) with 40 million fragments (80 million reads) based on internal data.)