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SOPHiA Clinical Exome Solution v3

From data to insights to confident care
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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
Product details Product Specifications Resources Contact Us
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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 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
Addressed Diseases Rare and inherited disorders
Genes 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 Preparation Time 1.5 days
Analysis Time From FASTQ File Overnight
Detected Variants
  • SNVs
  • Indels
  • CNVs
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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)

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