GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Human Mutation

Volumn 36, Issue 10, 2015, Pages 928-930

  Sobreira, Nara ^a   Schiettecatte, François ^b   Valle, David ^a   Hamosh, Ada ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b FS Consulting   (United States)

Author keywords

Matchmaker Exchange; Mendelian disease; Next generation sequencing; Variant analysis; Whole exome sequencing; Whole genome sequencing

Indexed keywords

ARTICLE; GENETIC DATABASE; GENETIC VARIABILITY; GENOMICS; HUMAN; PHENOTYPE; PRIORITY JOURNAL; BIOLOGY; COMPUTER INTERFACE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; INFORMATION DISSEMINATION; PROCEDURES; RARE DISEASE; SOFTWARE; WEB BROWSER;

COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INFORMATION DISSEMINATION; PHENOTYPE; RARE DISEASES; SOFTWARE; USER-COMPUTER INTERFACE; WEB BROWSER;

EID: 84941877741     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22844     Document Type: Article

References (5)

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4. Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. 2015. New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene. Hum Mutat 36:425-431.
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