Titlematchbox: An open-source tool for patient matching via the Matchmaker Exchange.
Publication TypeJournal Article
Year of Publication2018
AuthorsArachchi H, Wojcik MH, Weisburd B, Jacobsen JOB, Valkanas E, Baxter S, Byrne AB, O'Donnell-Luria AH, Haendel M, Smedley D, MacArthur DG, Philippakis AA, Rehm HL
JournalHum Mutat
Date Published2018 Dec

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.

Alternate JournalHum. Mutat.
PubMed ID30240502
PubMed Central IDPMC6250066
Grant ListUM1 HG008900 / / National Institutes of Health /
UM1 HG008900 / HG / NHGRI NIH HHS / United States
R24OD011883 / / National Institutes of Health /
T32GM007748 / / National Institutes of Health /
K12 HD052896 / HD / NICHD NIH HHS / United States
/ / Australian Government Research Training Program Scholarship /
/ / National Heart, Lung, and Blood Institute /
GNT1113531 / / Australian Genomics Health Alliance & NHMRC /
U24 HG008956 / / National Institutes of Health /
R24 OD011883 / OD / NIH HHS / United States
K12HD052896 / / National Institutes of Health /
/ / National Human Genome Research Institute /
/ / National Eye Institute /
U24 HG008956 / HG / NHGRI NIH HHS / United States
T32 GM007748 / GM / NIGMS NIH HHS / United States
/ / Maurice de Rohan International Scholarship /