Article
Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.
Human mutation - 1 Jan 2013
Shihab Hashem A, Gough Julian, Cooper David N, Stenson Peter D, Barker Gary L A, Edwards Keith J, Day Ian N M, Gaunt Tom R
Abstract excerpt
The rate at which nonsynonymous single nucleotide polymorphisms (nsSNPs) are being identified in the human genome is increasing dramatically owing to advances in whole-genome/whole-exome sequencing technologies. Automated methods capable of accurately and reliably distinguishing between pathogenic and functionally neutral nsSNPs are therefore assuming ever-increasing importance. Here, we describe the Functional...
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