PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Human Mutation

Volumn 36, Issue 10, 2015, Pages 931-940

  Buske, Orion J ^a,b   Girdea, Marta ^a,b   Dumitriu, Sergiu ^b   Gallinger, Bailey ^b   Hartley, Taila ^c   Trang, Heather ^b   Misyura, Andriy ^b   Friedman, Tal ^a   Beaulieu, Chandree ^c   Bone, William P ^d   Links, Amanda E ^d,h   Washington, Nicole L ^e   Haendel, Melissa A ^f   Robinson, Peter N ^g   Boerkoel, Cornelius F ^d,h   Adams, David ^d   Gahl, William A ^d   Boycott, Kym M ^c   Brudno, Michael ^a,b  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h Appistry Inc   (United States)

Author keywords

Deep phenotyping; HPO; Matchmaker Exchange; Patient matchmaking; Semantic similarity

Indexed keywords

ARTICLE; CLINICAL FEATURE; EXOME; GENETIC DATABASE; GENETIC DISORDER; GENOTYPE; HUMAN; MOLECULAR DIAGNOSIS; PHENOTYPE; PRIORITY JOURNAL; QUALITY CONTROL; RARE DISEASE; COMPUTER INTERFACE; COMPUTER PROGRAM; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; INFORMATION DISSEMINATION; PROCEDURES; WEB BROWSER;

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

EID: 84941874149     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22851     Document Type: Article

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