Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

Human Genomics

Volumn 8, Issue 1, 2014, Pages

  Shihab, Hashem A ^a   Gough, Julian ^a   Mort, Matthew ^b   Cooper, David N ^b   Day, Ian N M ^a   Gaunt, Tom R ^a  

^a UNIVERSITY OF BRISTOL   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Bioinformatics; Disease causing; Disease specific; FATHMM; HMMs; nsSNPs; PolyPhen; SIFT; SNV

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BIOLOGY; COMPUTER PROGRAM; GENETICS; HUMAN; INTERNET; MUTATION; PHENOTYPE; PROBABILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; COMPUTATIONAL BIOLOGY; HUMANS; INTERNET; MARKOV CHAINS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 84906926068     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-8-11     Document Type: Article

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