The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.

Computational predictions of the functional impact of genetic variation play a critical role in human genetics research. For nonsynonymous coding variants, most prediction algorithms make use of patterns of amino acid substitutions observed among homologous proteins at a given site. In particular, s...

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Bibliographic Details
Main Authors: Nicholas J Marini, Paul D Thomas, Jasper Rine
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-05-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2877731?pdf=render