Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy

American Journal of Human Genetics

Volumn 88, Issue 2, 2011, Pages 183-192

  Jordan, Daniel M ^a,b   Kiezun, Adam ^a   Baxter, Samantha M ^c   Agarwala, Vineeta ^b,c   Green, Robert C ^d,e,f   Murray, Michael F ^a   Pugh, Trevor ^c,f   Lebo, Matthew S ^c,f   Rehm, Heidi L ^c,f   Funke, Birgit H ^c,f   Sunyaev, Shamil R ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD UNIVERSITY   (United States)

^c LABORATORY FOR MOLECULAR MEDICINE   (United States)

^d BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e BOSTON UNIVERSITY   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOMATION; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MISSENSE MUTATION; PATHOGENICITY; PHYLOGENY; PREDICTOR VARIABLE; PRIORITY JOURNAL; PROCESS DEVELOPMENT; SENSITIVITY AND SPECIFICITY; SUPPORT VECTOR MACHINE; VALIDATION STUDY;

CARDIOMYOPATHY, HYPERTROPHIC; COMPUTATIONAL BIOLOGY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; MUTATION, MISSENSE; NUCLEAR PROTEINS;

EID: 79851484043     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.01.011     Document Type: Article

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