A method and server for predicting damaging missense mutations

Abstract

Applications of rapidly advancing sequencing technology exacerbate the need to interpret individual sequence variants. Sequencing of phenotyped clinical subjects will soon become a method of choice in studies of the genetic causes of Mendelian and complex diseases. New exon-capture techniques will direct sequencing efforts to the most informative and easily interpretable protein-coding fraction of the genome. Thus, the demand for computational predictions of the impact of protein sequence variants will continue to grow. Here we present a new method and the corresponding soft- ware tool, PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/, Supplementary Software), for predicting damaging effects of missense mutations.

Publication
Nat Methods 7(4): 248-9
Date
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