Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Genetics in Medicine

Volumn 19, Issue 2, 2017, Pages 192-203

  Walsh, Roddy ^a,b   Thomson, Kate L ^c,d   Ware, James S ^a,b,e   Funke, Birgit H ^f,g   Woodley, Jessica ^c   McGuire, Karen J ^c   Mazzarotto, Francesco ^a,b   Blair, Edward ^c   Seller, Anneke ^c   Taylor, Jenny C ^h,i   Minikel, Eric V ^g,l   MacArthur, Daniel G ^g,j,k   Farrall, Martin ^d,i   Cook, Stuart A ^b,e,m,n   Watkins, Hugh ^d,i  

^a ROYAL BROMPTON HOSPITAL   (United Kingdom)

^b NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e IMPERIAL COLLEGE LONDON   (United Kingdom)

^f LABORATORY FOR MOLECULAR MEDICINE   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h NIHR OXFORD BIOMEDICAL RESEARCH CENTRE   (United Kingdom)

ⁱ UNIVERSITY OF OXFORD   (United Kingdom)

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

^k HARVARD MEDICAL SCHOOL   (United States)

^l Exome Aggregation Consortium (ExAC)   (United States)

^m DEPARTMENT OF CARDIOLOGY   (Singapore)

ⁿ NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

more..

Author keywords

Clinical genetics; Exome Aggregation Consortium; Inherited cardiomyopathy; Mendelian genetics; Variation interpretation

Indexed keywords

ALPHA ACTININ 2; ALPHA TROPOMYOSIN; LAMININ ALPHA4; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5;

ABCC9 GENE; ACTC1 GENE; ALLELE; ANKRD1 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASQ2 GENE; CAV3 GENE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CRYAB GENE; CSRP3 GENE; DES GENE; DSC2 GENE; DSG2 GENE; DSP GENE; DTNA GENE; EMD GENE; FHL1 GENE; FHL2 GENE; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIATION; GENETICS; GLA GENE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INDEL MUTATION; JUP GENE; LDB3 GENE; LMNA GENE; MAJOR CLINICAL STUDY; MYBPC3 GENE; MYH6 GENE; MYH7 GENE; MYL2 GENE; MYL3 GENE; MYLK2 GENE; MYOZ2 GENE; NEXN GENE; PATHOGENICITY; PKP2 GENE; PLN GENE; PRKAG2 GENE; PROTEIN DOMAIN; SGCD GENE; TAZ GENE; TCAP GENE; TMEM43 GENE; TNN13 GENE; TNNC1 GENE; TNNT2 GENE; TTN GENE; TTR GENE; VCL GENE; BIOLOGY; CARDIOMYOPATHY; EXOME; GENETIC DATABASE; GENETIC DISORDER; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MUTATION; PATHOPHYSIOLOGY; WHOLE EXOME SEQUENCING;

CARDIOMYOPATHIES; COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; EXOME; GENETIC DISEASES, INBORN; GENETIC TESTING; GENETIC VARIATION; GENOME, HUMAN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; WHOLE EXOME SEQUENCING;

EID: 85011933920     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.90     Document Type: Article

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