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

Human Mutation
Harindra ArachchiHeidi L Rehm

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.

References

Apr 7, 2009·American Journal of Human Genetics·Helen V FirthNigel P Carter
May 3, 2013·Human Mutation·Marta GirdeaMichael Brudno
May 11, 2013·Database : the Journal of Biological Databases and Curation·Damian SmedleyChristopher Mungall
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Oct 19, 2017·Current Protocols in Human Genetics·Nara L M SobreiraUNKNOWN Matchmaker Exchange Consortium
Nov 4, 2017·American Journal of Human Genetics·Fadi F HamdanJacques L Michaud

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Citations

Aug 10, 2019·Clinical Genetics·Jameson PatakRobert R Lebel
Apr 28, 2020·Annual Review of Genomics and Human Genetics·Danielle R Azzariti, Ada Hamosh
Jun 2, 2020·Translational Science of Rare Diseases·Ellen F MacnamaraCynthia J Tifft
Oct 25, 2020·American Journal of Medical Genetics. Part a·David A DymentA Micheil Innes
Jun 1, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Gabriel C DworschakHeiko Reutter

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