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VarSome is a variant knowledge community, data aggregator and variant data discovery tool.
With VarSome Pro you can upload a VCF file containing simple or multiple samples for variant annotation and classification. Subsequently, you can use a sophisticated set of features for browsing and filtering your data. Already a VarSome user?
VarSome Clinical is a clinically-certified platform allowing accurate variant discovery, annotation, and interpretation of NGS data for whole genomes, exomes, and gene panels, which helps molecular geneticists and clinicians reach faster and more accurate diagnoses and treatment decisions for genetic conditions.
Jun 1, 2019 · VarSome is a search engine for human genomic variation. Users can search by gene name, transcript symbol, genomic location, variant ID or HGVS nomenclature (Dunnen et al., 2016). VarSome can also parse single lines from VCF files to look up the variant they describe.
Oct 30, 2018 · VarSome is both a powerful annotation tool and search engine for human genomic variants, and a platform enabling the sharing of knowledge on specific variants. Since its initial release in May 2016, VarSome has grown to 56 000 users from more than 120 different countries.
VarSome provides access to over 140 public genomics-related databases through its purpose-built data storage system called MolecularDB (see VarSome’s Big Data). As data quality is of paramount importa.
Introduction. This document provides general information and procedure to use VarSome Clinical, available by using the following URL: https://clinical.varsome.com/. ⚠ CAUTION These Instructions for Use (IFU) contain important information for the safe use of this product.
Interpretation Process. VarSome’s implementation of ACMG guidelines consists of two major steps: Automated scoring on each of the 18 rules. Manual review and adjustment on specific criteria to arrive at a final interpretation.
Here you can find some first useful information to help you begin your journey with VarSome Clinical. How do I register for VarSome Clinical? Read More How.
Learn about VarSome's community features allowing you to share your knowledge on variants with 200.000-strong global community of researchers or medical professionals. Become a member of VarSome's Human Genomics Community and start contributing today!
