The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Human Mutation

Volumn 36, Issue 10, 2015, Pages 915-921

  Philippakis, Anthony A ^a,b,c   Azzariti, Danielle R ^d   Beltran, Sergi ^e   Brookes, Anthony J ^f   Brownstein, Catherine A ^c,g   Brudno, Michael ^h,i   Brunner, Han G ^j,k   Buske, Orion J ^h,i   Carey, Knox ^l   Doll, Cassie ^m   Dumitriu, Sergiu ⁱ   Dyke, Stephanie O M ⁿ   den Dunnen, Johan T ^o   Firth, Helen V ^p   Gibbs, Richard A ^q   Girdea, Marta ^h,i   Gonzalez, Michael ^r   Haendel, Melissa A ^s   Hamosh, Ada ^t   Holm, Ingrid A ^c,g   Huang, Lijia ^u   Hurles, Matthew E ^v   Hutton, Ben ^v   Krier, Joel B ^b,c   Misyura, Andriy ⁱ   Mungall, Christopher J ^w   Paschall, Justin ^v   Paten, Benedict ^x   Robinson, Peter N ^y,z,aa,ab   Schiettecatte, François ^ac   Sobreira, Nara L ^t   Swaminathan, Ganesh J ^v   Taschner, Peter E ^o,ad   Terry, Sharon F ^ae   Washington, Nicole L ^b   Züchner, Stephan ^af   Boycott, Kym M ^u   Rehm, Heidi L ^a,b,c,d   more..

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

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Partners Health Care Center for Personalized Medicine   (United States)

^e Centro Nacional de Analisis Genomico   (Spain)

^f UNIVERSITY OF LEICESTER   (United Kingdom)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^l Gene Cloud   (United States)

^m GOOGLE INC   (United States)

ⁿ MCGILL UNIVERSITY   (Canada)

^o LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^p CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^q BAYLOR COLLEGE OF MEDICINE   (United States)

^r The Genesis Project Inc   (United States)

^s OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^t JOHNS HOPKINS UNIVERSITY   (United States)

^u CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^v WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^w LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^x University of California Santa Cruz   (United States)

^y CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^z MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^aa FREIE UNIVERSITÄT BERLIN   (Germany)

^ab Berlin Brandenburg Center for Regenerative Therapies   (Germany)

^ac FS Consulting   (United States)

^ad UNIVERSITY OF APPLIED SCIENCES LEIDEN   (Netherlands)

^ae GENETIC ALLIANCE   (United States)

^af UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

more..

Author keywords

GA4GH, IRDiRC; Gene discovery; Genomic API; Matchmaker Exchange; Matchmaking; Rare disease

Indexed keywords

ALGORITHM; ARTICLE; CLINICAL LABORATORY; COMPUTER INTERFACE; COMPUTER PROGRAM; GENE; GENETIC DATABASE; GENETIC PRIVACY; GENOTYPE; HUMAN; HUMAN COMPUTER INTERACTION; INFORMATION PROCESSING; INFORMED CONSENT; MEDICAL RESEARCH; PHENOTYPE; POLICY; PRIORITY JOURNAL; RARE DISEASE; DATABASE MANAGEMENT SYSTEM; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; INFORMATION DISSEMINATION; PROCEDURES; SOFTWARE;

DATABASE MANAGEMENT SYSTEMS; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFORMATION DISSEMINATION; RARE DISEASES; SOFTWARE;

EID: 84941873668     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22858     Document Type: Article

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