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.
How does VarSome Clinical work?
Upload FASTQ or VCF
VarSome Clinical accepts FASTQ and VCF files. You can upload the data easily and securely through its web interface or you can harness VarSome’s powerful API for an automated and secure data transfer. Once the files are uploaded, you can start the analysis!
Annotation & Classification
VarSome Clinical’s robust pipeline is capable of analyzing gene panels, exomes, and whole genomes for individual samples, trios, families, and cohorts in just minutes. VarSome Clinical leverages the massive cross-referenced knowledge base of the free VarSome.com platform, and also offers access to licensed databases.
Intuitive Web Portal
VarSome Clinical’s feature-rich and intuitive web interface allows for variant filtering according to pathogenicity, ACMG classification, allele frequency, gene list or phenotype, and many more. Dynamic and algorithmic filters allow you to perform simple or advanced filtering like segregation analysis, identification of de novo variants or variants in imprinted genes.
Clinical Report Generation
Once you have narrowed down the list of variants of interest, you can proceed with clinical report generation, which includes all the details of your variants, including literature references and your custom comments. The layout of the report is fully customizable according to your unique logos and branding policy.