CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

Genetics in Medicine

Volumn 20, Issue 10, 2018, Pages 1246-1254

  Whiffin, Nicola ^a,b,c   Walsh, Roddy ^a,b   Govind, Risha ^a,b   Edwards, Matthew ^b   Ahmad, Mian ^a,b   Zhang, Xiaolei ^a,b   Tayal, Upasana ^a,b   Buchan, Rachel ^a,b   Midwinter, William ^a,b   Wilk, Alicja E ^a,b   Najgebauer, Hanna ^a,b   Francis, Catherine ^a,b   Wilkinson, Sam ^b   Monk, Thomas ^b   Brett, Laura ^b   O’Regan, Declan P ^c   Prasad, Sanjay K ^a,b   Morris Rosendahl, Deborah J ^a,b   Barton, Paul J R ^a,b   Edwards, Elizabeth ^a,b   Ware, James S ^a,b,c   Cook, Stuart A ^a,b,d,e   more..

^a NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

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

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d DEPARTMENT OF CARDIOLOGY   (Singapore)

^e DUKE NUS MEDICAL SCHOOL   (Singapore)

Author keywords

bioinformatics; clinical genomics; inherited cardiac conditions; next generation sequencing; variant interpretation

Indexed keywords

ARTICLE; AUTOMATION; CARDIOCLASSIFIER; CARDIOMYOPATHY; CLINICAL ASSESSMENT TOOL; CLINICAL DECISION SUPPORT SYSTEM; CONTROLLED STUDY; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIATION; HEART DISEASE; HUMAN; MOLECULAR GENETICS; PATHOGENICITY; PRACTICE GUIDELINE; REPRODUCIBILITY; BIOLOGY; CARDIOVASCULAR MALFORMATION; DECISION SUPPORT SYSTEM; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MUTATION; PATHOLOGY; SOFTWARE;

CARDIOVASCULAR ABNORMALITIES; COMPUTATIONAL BIOLOGY; DECISION SUPPORT TECHNIQUES; GENETIC TESTING; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; SOFTWARE;

EID: 85054465415     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.258     Document Type: Article

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