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Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

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 a...

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Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Blackwell Publishing Ltd 2013
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3558800/
https://ncbi.nlm.nih.gov/pubmed/23033316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22225
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