{"name":"VariantValidator","description":"VariantValidator is a user-friendly software tool designed to validate the syntax and parameters of DNA variant descriptions according to the HGVS Sequence Variant Nomenclature.\n\nVariantValidator ensures that users are guided through the intricacies of the HGVS nomenclature, e.g. if the user makes a mistake, VariantValidator automatically corrects the mistake if it can, or provides helpful guidance if it cannot. In addition, VariantValidator accurately inter-converts between transcript variant descriptions and genomic variant descriptions in HGVS and Variant Call Format (VCF)\n\nVariantValidator interfaces with the hgvs package to parse, format, and manipulate biological sequence variants. See https://github.com/biocommons/hgvs/ for details of the hgvs package\n\nVariantValidator is a highly functional platform enabling high-throughput and embeddable utilisation of functionality of https://variantvalidator.org/","homepage":"http://variantvalidator.org/","biotoolsID":"VariantValidator","biotoolsCURIE":"biotools:VariantValidator","version":[],"otherID":[],"relation":[],"function":[{"operation":[{"uri":"http://edamontology.org/operation_3227","term":"Variant calling"},{"uri":"http://edamontology.org/operation_1812","term":"Parsing"}],"input":[],"output":[],"note":null,"cmd":null}],"toolType":[],"topic":[{"uri":"http://edamontology.org/topic_0089","term":"Ontology and terminology"},{"uri":"http://edamontology.org/topic_0203","term":"Gene expression"}],"operatingSystem":[],"language":["Python"],"license":"AGPL-3.0","collectionID":[],"maturity":null,"cost":null,"accessibility":null,"elixirPlatform":[],"elixirNode":[],"elixirCommunity":[],"link":[],"download":[{"url":"https://github.com/openvar","type":"Other","note":"Links to git repositories for the VariantValidator resources","version":null}],"documentation":[],"publication":[{"doi":"10.1002/humu.23348","pmid":"28967166","pmcid":"PMC5765404","type":[],"version":null,"note":null,"metadata":null}],"credit":[],"owner":"CAUSEYFREEMAN","additionDate":"2021-04-20T13:08:10Z","lastUpdate":"2022-11-30T13:56:32.036852Z","editPermission":{"type":"private","authors":[]},"validated":0,"homepage_status":0,"elixir_badge":0,"confidence_flag":null}