SOPHiA Clinical Exome Solution v2

From data to insights to confident care

SOPHiA Clinical Exome Solution v2 offers a streamlined end-to-end workflow (from sample to variant report), that dramatically facilitates the assessment of challenging Mendelian disease cases, freeing up time and resources.
The solution bundles a capture-based target enrichment kit with the analysis and interpretation functions of the 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 insights in complex data, thus dramatically reducing turnaround time.
Ready-to-sequence target enriched library in just 1.5 days
Customizable panel covering 4,490 genes related to rare and inherited diseases
CNV detection for 98.1% of genes, even for areas with high GC-rich content
Accurate variant annotation, based on UCSC-built hg38 human genome and comprehensive transcript annotation with MANE
Streamlined variant interpretation thanks to the SOPHiA DDM™ platform-integrated filtering features, including trio analyses to analyze variants by inheritance mode, and access to updated and trusted databases, such as OMIM and HPO
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Product Details

The coverage you need for accurate CNV detection

SOPHiA Clinical Exome Solution v2 achieves high on-target rates for reliable coverage uniformity values across all target regions, even GC-rich ones. Equal read coverage is crucial to the precise identification of multiple types of variations, including CNVs. With SOPHiA Clinical Exome Solution v2, you can reach more than 90% analytical sensitivity for CNV detection*.

CES coverage
Coverage uniformity profile of a typical sample analyzed with SOPHiA Clinical Exome Solution. The X-axis represents the chromosomic positions targeted by each solution and the Y-axis the log2 coverage normalized by the median. The closer the dots are to the 0 line, the more homogenous the reads are covering each target.
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Dedicated features to ease variant interpretation

The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline interpretation and help 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 Panels 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

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.

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Specifications

Parameters Details
Genes 4,490
Target Region Size 12 Mb
Sample Type Blood
DNA Input Amount 200 ng
Sequencer Compatibility
  • Illumina NovaSeq® 6000
  • MiSeq®
  • NextSeq® 500/550
  • HiSeq® 2500, 3000/4000
Library Preparation Time 1.5 days
Analysis Time From FASTQ File Overnight
Detected Variants
  • SNVs
  • Indels
  • CNVs
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Contact us

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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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