VarSome Clinical is a CE‑IVDR platform for clinical interpretation of NGS data that turns genomic data into actionable information. The software performs calling, annotation, classification and prioritisation of germline and somatic variants, linking them with curated evidence to support faster and more reliable diagnostic decisions.
Detailed Description
Principle of operation
VarSome Clinical is a comprehensive platform for laboratories that enables structured, traceable and evidence‑based interpretation of NGS data, in both germline and somatic studies.
The platform allows the creation of an internal database of samples and variants, monitoring of internal frequencies and sharing of selected data with collaborating institutions.
Its operation is based on optimised pipelines to ensure reproducibility, sensitivity and accuracy. Clinical interpretation is supported by a knowledge base with more than 140 public and proprietary sources, including ClinVar, gnomAD, DECIPHER, OncoKB™, CKB and COSMIC, with regular updates.
VarSome Clinical facilitates variant prioritisation through dynamic filters by allele frequency, pathogenicity, zygosity, genes, function, inheritance, de novo variants, compound heterozygosity, carrier screening and phenotype, reducing analytical noise and helping to identify clinically relevant variants.
Clinical applications
VarSome Clinical is a platform for the interpretation of NGS data in genetics, in both the germline and precision oncology fields.
In the germline context, it allows analysis of panels, exomes and whole genomes in individual samples, trios, families and cohorts. It classifies variants according to ACMG guidelines, with documented and traceable rules.
In the oncology field, it integrates sources such as COSMIC, OncoKB™ and CKB to support the interpretation of somatic variants. It includes classification based on AMP/ASCO/CAP guidelines, annotation and visualisation of fusions, TMB/MSI biomarkers.
Benefits
Accelerates NGS data interpretation through automation, curated evidence and advanced prioritisation tools.
Rapid identification of relevant variants thanks to configurable filters, adapted to specific needs.
Intelligent prioritisation with VarSome Picks, which uses AI to highlight potentially causal variants based on disease, phenotype, implicated gene and variant type.
Standardisation of teamwork, allowing filters to be shared within the organisation and common criteria to be applied.
Visual review in genomic context, using tools such as IGV, allowing more accurate evaluation of variants.
Intended user / audience
Solution aimed at clinical laboratories, genetics services, molecular oncology units, clinical bioinformaticians and genomic diagnostic teams that need to interpret germline and somatic NGS data with evidence support, traceability, automation and advanced prioritisation tools.
Considerations or limitations
Does not provide direct diagnosis, requires expert interpretation.
Key Features
CE‑IVDR Class C platform for clinical interpretation of NGS data.
Compatible with both germline and somatic applications.
Compatible with FASTQ and VCF data input, facilitating integration into different NGS workflows.
Germline classification based on ACMG guidelines and somatic classification based on AMP/ASCO/CAP guidelines.
Broad and curated knowledge base, with more than 140 sources, including, among others: ClinVar, gnomAD, DECIPHER, OncoKB™, CKB and COSMIC.
Dynamic, configurable and reusable filters, including algorithmic criteria for complex scenarios.
Contextual visualisation of variants, including SNV, CNV, structural variants and fusions, with tools such as IGV to review variants in their genomic context.
Customisable reports, with editable templates.
Complete traceability, through action logging, audit trail and audit controls.
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