MutationTaster

It evaluates the pathogenic potential of DNA sequence alterations. It is designed to predict the functional consequences of amino acid substitutions as well as intronic and synonymous alterations, short insertion and/or deletion mutations and variants spanning intron-exon borders.

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Topics

Genetic variation Medical informatics Data mining Computer science Gene transcripts DNA mutation Rare diseases

Collections

ELIXIR-DE RD-connect Rare Disease

Details

Maturity:: Mature
Cost:: Free of charge (with restrictions)
Tool Type:: api, web application
Operating Systems:: Linux, Windows, Mac
Added:: 7/4/2017
Last Updated:: 6/16/2020

Operations

Publications

Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nature Methods. 2014;11(4):361-362. doi:10.1038/nmeth.2890. PMID:24681721.

DOI: 10.1038/nmeth.2890

PMID: 24681721

Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nature Methods. 2010;7(8):575-576. doi:10.1038/nmeth0810-575. PMID:20676075.

DOI: 10.1038/nmeth0810-575

PMID: 20676075

Documentation

User manual

http://www.mutationtaster.org/info/documentation.html

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