Annotation and interpretation of SNVs, indels, CNVs, SVs, and repeat expansions is supported in a unified framework. Classifications are evidence-based and aligned with AMP/ASCO/CAP guidelines, ensuring consistent and transparent evaluation of clinical significance. Integrated datasets and curated knowledge sources keep results anchored in the latest scientific and clinical understanding.
Annotations draw from oncology-focused resources such as OncoKB™, CIViC, PharmaGKB, and other curated datasets.
Variants are linked to drug associations, predictive biomarkers, and clinical trial opportunities, helping connect molecular findings to therapeutic options and research directions.
Support for mutational signatures, Tumor Mutational Burden (TMB), and Microsatellite Instability (MSI) provides insight into key biomarkers that guide immunotherapy decisions. Gene- and cancer type-specific annotations further tailor variant interpretation to the biological and clinical context of each tumor, ensuring results are both precise and clinically relevant.
Each classification is backed by traceable evidence, including direct links to the underlying literature and databases. Users can review how each rule was applied and toggle individual criteria on or off, providing full control to interrogate the classification and understand the reasoning behind it.
At-a-glance summaries help highlight relevant findings, ready to be included in clinical reports. Evidence is organised into therapeutic, prognostic, and diagnostic categories to support clear communication of molecular results.
Reports can be exported as PDF or JSON to ensure flexibility for both clinical documentation and downstream analysis.
Built to handle both individual tumor cases and large cohort studies, VarSome adapts to the scale of each project without compromising consistency. Full API support enables seamless integration into existing oncology workflows for reproducible and efficient analysis across research and clinical findings.

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.
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