Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

As the number of non-synonymous single nucleotide polymorphisms (nsSNPs) identified through whole-exome/whole-genome sequencing programs increases, researchers and clinicians are becoming increasingly reliant upon computational prediction algorithms designed to prioritize potential functional varian...

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Veröffentlicht in:	Human genomics Jg. 8; H. 1; S. 11
Hauptverfasser:	Shihab, Hashem A, Gough, Julian, Mort, Matthew, Cooper, David N, Day, Ian NM, Gaunt, Tom R
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	London BioMed Central 30.06.2014 Springer Nature B.V
Schlagworte:	Algorithms Amino Acid Substitution - genetics Bioinformatics Biomedical and Life Sciences Biomedicine Cancer Computational Biology Human Genetics Humans Internet Markov Chains Metabolic disorders Mutation Mutation - genetics Phenotype Polymorphism, Single Nucleotide - genetics Primary Research Proteins Proteomics Software Studies Training FATHMM PolyPhen SIFT nsSNPs Disease-causing SNV HMMs Bioinformatics Disease-specific
ISSN:	1479-7364, 1473-9542, 1479-7364
Online-Zugang:	Volltext
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