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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Detalles Bibliográficos
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2013
Materias:
Informatics
Acceso en línea: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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