期刊
HUMAN MUTATION
卷 39, 期 12, 页码 1827-1834出版社
WILEY
DOI: 10.1002/humu.23655
关键词
matchbox; Matchmaker Exchange; novel gene; open-source; rare disease
资金
- National Institutes of Health [T32GM007748, UM1HG008900, U24HG008956, R24OD011883, K12HD052896]
- National Human Genome Research Institute
- National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program
- National Eye Institute
- Australian Genomics Health Alliance NHMRC [GNT1113531]
- Maurice de Rohan International Scholarship
- Australian Government Research Training Program Scholarship
- BroadIgnite award from the Broad Institute
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [K12HD052896] Funding Source: NIH RePORTER
- NATIONAL HUMAN GENOME RESEARCH INSTITUTE [U24HG008956, UM1HG008900] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM007748] Funding Source: NIH RePORTER
- OFFICE OF THE DIRECTOR, NATIONAL INSTITUTES OF HEALTH [R24OD011883] Funding Source: NIH RePORTER
Rare disease investigators constantly face challenges in identifying additional cases to build evidence for gene-disease causality. The Matchmaker Exchange (MME) addresses this limitation by providing a mechanism for matching patients across genomic centers via a federated network. The MME has revolutionized searching for additional cases by making it possible to query across institutional boundaries, so that what was once a laborious and manual process of contacting researchers is now automated and computable. However, while the MME network is beginning to scale, the growth of additional nodes is limited by the lack of easy-to-use solutions that can be implemented by any rare disease database owner, even one without significant software engineering resources. Here, we describe matchbox, which is an open-source, platform-independent, portable bridge between any given rare disease genomic center and the MME network, which has already led to novel gene discoveries. We also describe how matchbox greatly reduces the barrier to participation by overcoming challenges for new databases to join the MME.
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