Article
IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants.
Nucleic acids research - 17 Feb 2017
Knecht Carolin, Mort Matthew, Junge Olaf, Cooper David N, Krawczak Michael, Caliebe Amke
Abstract excerpt
The in silico prediction of the functional consequences of mutations is an important goal of human pathogenetics. However, bioinformatic tools that classify mutations according to their functionality employ different algorithms so that predictions may vary markedly between tools. We therefore integrated nine popular prediction tools (PolyPhen-2, SNPs&GO, MutPred, SIFT, MutationTaster2, Mutation Assessor and...
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