Article

MutPred2: inferring the molecular and phenotypic impact of amino acid variants

2017-05-09

Abstract excerpt

We introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid substitutions, generates molecular mechanisms potentially causative of disease, and returns interpretable pathogenicity score distributions on individual genomes. While its prioritization performance is state-of-the-art, a novel and distinguishing feature of MutPred2 is the probabilistic modeling of variant impact on specific a...

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Literature Corpus work: a6918d29-ff11-511c-bbca-767f31070daa
DOI: 10.1101/134981

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