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. 2018 Dec;39(12):1827-1834.
doi: 10.1002/humu.23655. Epub 2018 Oct 3.

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

Harindra Arachchi  1   2 , Monica H Wojcik  1   3 , Benjamin Weisburd  1 , Julius O B Jacobsen  4 , Elise Valkanas  1 , Samantha Baxter  1 , Alicia B Byrne  1   5   6 , Anne H O'Donnell-Luria  1   3 , Melissa Haendel  7   8 , Damian Smedley  4 , Daniel G MacArthur  1   2   9 , Anthony A Philippakis  2 , Heidi L Rehm  1   2   9
Affiliations

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

Harindra Arachchi et al. Hum Mutat. 2018 Dec.

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.

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Figures

Figure 1.
Figure 1.
Family page in seqr (using test data for exhibition)
Figure 2:
Figure 2:
Family page that summarizes results from MME search (using test data for exhibition)
Figure 3:
Figure 3:
Detailed MME search result page (using test data for exhibition)
See this image and copyright information in PMC

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