The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

Human Mutation

Volumn 36, Issue 5, 2015, Pages 513-523

  Grimm, Dominik G ^a,b,c   Azencott, Chloé Agathe ^a,d,e,f   Aicheler, Fabian ^a,b   Gieraths, Udo ^a   Macarthur, Daniel G ^g,h,i   Samocha, Kaitlin E ^g,h,i   Cooper, David N ^j   Stenson, Peter D ^j   Daly, Mark J ^g,h,i   Smoller, Jordan W ^g,h,i   Duncan, Laramie E ^g,h,i   Borgwardt, Karsten M ^a,b,c  

^a MAX PLANCK INSTITUTE FOR DEVELOPMENTAL BIOLOGY   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c ETH ZURICH   (Switzerland)

^d PSL RESEARCH UNIVERSITY   (France)

^e INSTITUT CURIE   (France)

^f INSERM   (France)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^j CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

more..

Author keywords

Exome sequencing; Pathogenicity prediction tools

Indexed keywords

PROTEIN;

ARTICLE; COMPARATIVE STUDY; COMPUTER MODEL; EVALUATION STUDY; HUMAN; MISSENSE MUTATION; PATHOGENICITY; PREDICTION; PRIORITY JOURNAL; TRAINING; BIOLOGY; INFORMATION PROCESSING; INTERNET; PROCEDURES; REPRODUCIBILITY; SOFTWARE; WEB BROWSER;

COMPUTATIONAL BIOLOGY; DATASETS AS TOPIC; HUMANS; INTERNET; MUTATION, MISSENSE; REPRODUCIBILITY OF RESULTS; SOFTWARE; WEB BROWSER;

EID: 84928198929     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22768     Document Type: Article

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