A combined functional annotation score for non-synonymous variants

Human Heredity

Volumn 73, Issue 1, 2012, Pages 47-51

  Lopes, Margarida C ^a,b   Joyce, Chris ^a   Ritchie, Graham R S ^c   John, Sally L ^d   Cunningham, Fiona ^c   Asimit, Jennifer ^a   Zeggini, Eleftheria ^a  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^d PFIZER INC   (United States)

Author keywords

CAROL; PolyPhen 2; SIFT; Weighted Z method

Indexed keywords

ACCURACY; ARTICLE; BIOINFORMATICS; COMPUTER MODEL; DNA POLYMORPHISM; GENE SEQUENCE; GENETIC ALGORITHM; GENETIC PROCEDURES; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN GENOME; MOLECULAR GENETICS; PHENOTYPE; PREDICTION; PROBABILITY SAMPLE; SCORING SYSTEM; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; GENOMICS; HUMANS; MOLECULAR SEQUENCE ANNOTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; ROC CURVE; SOFTWARE;

EID: 84855896680     PISSN: 00015652     EISSN: 14230062     Source Type: Journal    
DOI: 10.1159/000334984     Document Type: Article

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