Varsome NGS Data Analysis

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About the Company

We are the creators of VarSome, a suite of bioinformatics tools for processing and annotation of NGS data. We are a multi-disciplinary team driven by passion and curiosity, bringing together strong skills in life sciences and software engineering.

Features of

70+ Genomic Databases

VarSome offers a massive cross-referenced knowledge base consisting of 70+ genomic databases, representing over 33 billion data points. But there is more to it: whenever a public database is updated, VarSome processes it and makes it available to the whole genomics community for annotation and classification! Resources: CGD, HGNC, Ensembl, RefSeq, UniGene, CIViC genes, dbSNP, GERP, ClinVar, IARC TP53 germline, IARC TP53 somatic, ICGC germline, ICGC somatic, Kaviar, gnomAD Exomes, gnomAD Genomes, DANN scores, CIViC mutations, HPO, UniProt variants, UniProt domains, GWAS Catalog, GHR, DGV, DECIPHER, ClinVar, ExAC CNVs, PanelApp, MONDO, PMKB, DOMINO, GDC, Bravo, MitoMap, SIFT, SIFT4G, PROVEAN, LRT, MutationTaster, MutationAssessor, FATHMM, fitCons, MetaSVM and MetaLR, Eigen & Eigen PC, M-CAP, REVEL, MutPred, MVP, MPC, PrimateAI, deogen2, ALoFT, phyloP, phastCons, bStatistic, GTEx, UniProt Genes, BioCarta Pathway, ConsensusPathDB, KEGG pathway, GDI, LoFTool, Essential genes, GHIS, RVIS, HIPred, P(HI) Score, P(rec) Score, GNF/Atlas Expressions, Gene Ontology.

Please note that with you can access proprietary and licensed datasets of some 3rd party data providers, although you still need to obtain a corresponding license. You can also import your own local database with allele frequencies and integrate it privately in your VarSome Clinical account for annotation and ACMG classification of your variants.

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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