matchbox: An open-source tool for patient matching via the Matchmaker Exchange.

Hum Mutat
Authors
Keywords
Abstract

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.

Year of Publication
2018
Journal
Hum Mutat
Volume
39
Issue
12
Pages
1827-1834
Date Published
2018 12
ISSN
1098-1004
DOI
10.1002/humu.23655
PubMed ID
30240502
PubMed Central ID
PMC6250066
Links
Grant list
UM1 HG008900 / HG / NHGRI NIH HHS / United States
K12 HD052896 / HD / NICHD NIH HHS / United States
R24 OD011883 / OD / NIH HHS / United States
U24 HG008956 / HG / NHGRI NIH HHS / United States
T32 GM007748 / GM / NIGMS NIH HHS / United States