期刊
HUMAN MUTATION
卷 36, 期 10, 页码 915-921出版社
WILEY
DOI: 10.1002/humu.22858
关键词
matchmaking; rare disease; genomic API; gene discovery; Matchmaker Exchange; GA4GH, IRDiRC
资金
- NIH [U41HG006834, T32GM007748, R01NS075764, 5R01NS072248, U54NS065712, U54HG006542, N01CO42400-80, HG007530, HG007690, U54HG007990, HD077671, 5R24OD011883, U54HG003273]
- BioSHaRE-EU project (EC FP7) [261433]
- PCORI [PPRN-1306-04899]
- RobertWood Johnson Foundation [71636]
- PXE International
- Genome Canada
- Canadian Institutes of Health Research [EP1-120608, EP2-120609]
- Ontario Genomics Institute
- NSERC/CIHR Collaborative Health Research Project (CHRP)
- Garron Family Cancer Centre and Hospital for Sick Children Foundation Student Scholarship Program
- Broad Ignite Award
- NCI Cloud Pilot [N01CO42400-80]
- Wellcome Trust [WT098051]
- Director, Office of Science
- Office of Basic Energy Sciences of US Department of Energy [DE-AC02-05CH11231]
- European Union Seventh Framework Programme [305444, U54 HG003273]
- Canada Research Chair in Law and Medicine
- Public Population Project in Genomics and Society (P3G)
There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for the needle in a haystack to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can match these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow. (C) 2015 Wiley Periodicals, Inc.
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