VarSome Clinical
VarSome Clinical is a CE IVD-certified and HIPAA-compliant platform allowing fast and accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels. VarSome Clinical helps molecular geneticists and clinicians increase the diagnostic yield and support treatment decisions for genetic conditions.
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End-to-End Bioinformatics Solution for Next-Generation Sequencing

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Oncology

VarSome Clinical brings all variant types into one workspace, combining AMP-guideline classification, FDA-recognised OncoKB annotations, and real-time therapy insights from our massive variant knowledge base, in a CE-IVDR certified platform.
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New TMB/MSI Biomarkers

TMB MSI 
 
VarSome Clinical enables accurate TMB and MSI assessment from tumor-only sequencing data, so no matched normal is required.
 
TMB is estimated from WES or Agilent CGP panels with ≥50x coverage, with variants filtered to remove germline noise. Both total and non-synonymous mutation rates are reported, with samples classified as TMB-high (≥10 mut/Mb) or TMB-low.
 
MSI status is determined from FASTQ data using a TCGA-derived baseline and cancer-specific thresholds, with results reported as MSI-High or Not Detected.
 
Both workflows are optimised for clinical interpretation and integrate seamlessly into the somatic analysis pipeline.
 

Clinical Implications

4

Colorectal Cancer

MSI-H incidence is approximately 15% in early-stage CRCS. This subset has demonstrated favourable outcomes in response to PD-1 blockade versus MSS CRC.

1

Endometrial Cancer

Around 26-31% of ECs show dMMR, and a further 8% carry POLE mutations - both associated with high TMB. ESMO guidelines recommend dMMR testing for all recurrent or advanced cases.
 
3

Gastrointestinal Cancers

MSI-H is found in up to 25% of gastric and GEJ cancers and predicts strong response to immunotherapy. TMB-high is less common but also clinically relevant.
 
2

NSCLC and SCLC

MSI-H is rare in lung cancers, but both NSCLC and SCLC can exhibit high TMB. In NSCLC, combination therapy with nivolumab and ipilimumab showed marked benefit in TMB-high patients versus chemotherapy alone.

More than 5000 organizations and a growing community of 500 000 on the VarSome suite!

Member of Global Alliance

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