SOPHiA Clinical Exome Solution v2

From data to insights to confident care

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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.

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  • 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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Parameters Details
Gene Panel 4,490
Target Regions 12 Mb
Sample Source Blood
DNA Input 200 ng
Sequencer Compatibility Illumina NovaSeq® 6000, MiSeq®, NextSeq® 500/550, HiSeq® 2500, 3000/4000
Library Prep Time 1.5 days
Analysis time from FASTQ file Overnight
Detected Variants SNVs Indels CNVs

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*.
Data pooling and knowledge sharing

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.

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.

Automated workflow to boost laboratory efficiency

SOPHiA Clinical Exome Solution v2 can be coupled with leading liquid handling robots for a fully automated library preparation. Discover how a Greek genetic research and diagnostics center chose to couple the Hamilton STARlet robot with the SOPHiA Clinical Exome Solution v2 for an increasing workload while ensuring high-quality results.

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Read More


Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes


Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders


Secondary findings in 622 Turkish clinical exome sequencing data


Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

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Related solutions

SOPHiA Whole Exome Solution

Our sample-to-report solution supports researchers in accelerating assessment of variants associated with rare and inherited diseases.

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SOPHiA DDM™ for KAPA HyperExome

With a fully integrated workflow from FASTQ to report, our solution streamlines multiple types of variants detection, interpretation, and reporting.
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*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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