Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

Genome Medicine

Volumn 7, Issue 1, 2015, Pages

  Ruklisa, Dace ^a   Ware, James S ^b,c   Walsh, Roddy ^b   Balding, David J ^a,d   Cook, Stuart A ^b,c,e,f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e DEPARTMENT OF CARDIOLOGY   (Singapore)

^f DUKE NUS MEDICAL SCHOOL   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5;

AMINO TERMINAL SEQUENCE; ARTICLE; BAYES THEOREM; BRUGADA SYNDROME; CARBOXY TERMINAL SEQUENCE; CLINICAL DECISION MAKING; CONTROLLED STUDY; FALSE POSITIVE RESULT; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEGREGATION; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INDEL MUTATION; KCNE1 GENE; KCNE2 GENE; KCNH2 GENE; KCNJ5 GENE; KCNQ1 GENE; LONG QT SYNDROME; MISSENSE MUTATION; MYH7 GENE; PATHOGENICITY; PREDICTIVE VALUE; PRIORITY JOURNAL; PROBABILITY; SCN5A GENE; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

EID: 84937762593     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-014-0120-4     Document Type: Article

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