@article{98c273370cca4120ab1f76f366a16e73,
title = "matchbox: An open-source tool for patient matching via the Matchmaker Exchange",
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.",
keywords = "Matchmaker Exchange, matchbox, novel gene, open-source, rare disease",
author = "Harindra Arachchi and Wojcik, {Monica H.} and Benjamin Weisburd and Jacobsen, {Julius O.B.} and Elise Valkanas and Samantha Baxter and Byrne, {Alicia B.} and O'Donnell-Luria, {Anne H.} and Melissa Haendel and Damian Smedley and MacArthur, {Daniel G.} and Philippakis, {Anthony A.} and Rehm, {Heidi L.}",
note = "Funding Information: informationNational Institutes of Health, Grant/Award Numbers: T32GM007748, UM1 HG008900, U24 HG008956, R24OD011883, and 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, Grant/Award Number: GNT1113531; Maurice de Rohan International Scholarship; Australian Government Research Training Program Scholarship. This work was also supported by a BroadIgnite award from the Broad Institute.We would like to thank all members of the MME steering committee, technical, and general working groups. We especially like to thank Nara Sobreira, Ada Hamosh, Fran{\c c}ois Schiettecatte, and Orion J. Buske for their help and guidance when we were designing and launching matchbox. We also thank Konrad Karczewski, Matthew Solomonson, Beryl Cummings, Laurent Francioli, and the whole MacArthur-Rehm Rare Disease Group for their help and guidance with algorithm and API design. We would also like to thank members of the Monarch Initiative, especially Peter Robinson, Sebastian K{\"o}ller, and Chris Mungall for work on the HPO and phenotype comparison algorithms. Funding Information: National Institutes of Health, Grant/Award Numbers: T32GM007748, UM1 HG008900, U24 HG008956, R24OD011883, and 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, Grant/Award Number: GNT1113531; Maurice de Rohan International Scholarship; Australian Government Research Training Program Scholarship. This work was also supported by a BroadIgnite award from the Broad Institute. Publisher Copyright: {\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = dec,
doi = "10.1002/humu.23655",
language = "English (US)",
volume = "39",
pages = "1827--1834",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "12",
}