Using high-resolution variant frequencies to empower clinical genome interpretation

Genetics in Medicine

Volumn 19, Issue 10, 2017, Pages 1151-1158

  Whiffin, Nicola ^a,b   Minikel, Eric ^c,d   Walsh, Roddy ^a,b   O'Donnell Luria, Anne H ^c,d   Karczewski, Konrad ^c,d   Ing, Alexander Y ^c,e   Barton, Paul J R ^a,b   Funke, Birgit ^c,e   Cook, Stuart A ^a,b,f,g   Macarthur, Daniel ^c,d,h   Ware, James S ^a,b,d,i  

^a NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^b ROYAL BROMPTON AND HAREFIELD NHS FOUNDATION TRUST   (United Kingdom)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^e LABORATORY FOR MOLECULAR MEDICINE   (United States)

^f DEPARTMENT OF CARDIOLOGY   (Singapore)

^g NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

allele frequency; clinical genomics; ExAC; inherited cardiovascular conditions; variant interpretation

Indexed keywords

ARTICLE; BRUGADA SYNDROME; CARDIOMYOPATHY; COHORT ANALYSIS; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENETIC VARIATION; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; KCNQ1 GENE; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MYBPC3 GENE; PATHOGENESIS; PKP2 GENE; PREVALENCE; SCN5A GENE; TNNT2 GENE; WHOLE GENOME SEQUENCING; DNA SEQUENCE; EXOME; GENETIC DATABASE; GENETICS; PENETRANCE; PROCEDURES; STATISTICS AND NUMERICAL DATA; WHOLE EXOME SEQUENCING;

CARDIOMYOPATHIES; DATABASES, GENETIC; EXOME; GENE FREQUENCY; GENETIC VARIATION; HUMANS; PENETRANCE; SEQUENCE ANALYSIS, DNA; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING;

EID: 85028908595     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.26     Document Type: Article

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