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.
| Original language | English (US) |
|---|---|
| Journal | Human Mutation |
| DOIs | |
| State | Accepted/In press - Jan 1 2018 |
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Keywords
- matchbox
- Matchmaker Exchange
- novel gene
- open-source
- rare disease
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
matchbox : An open-source tool for patient matching via the Matchmaker Exchange. / Arachchi, Harindra; Wojcik, Monica H.; Weisburd, Benjamin; Jacobsen, Julius O.B.; Valkanas, Elise; Baxter, Samantha; Byrne, Alicia B.; O'Donnell-Luria, Anne H.; Haendel, Melissa; Smedley, Damian; MacArthur, Daniel G.; Philippakis, Anthony A.; Rehm, Heidi L.
In: Human Mutation, 01.01.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - matchbox
T2 - An open-source tool for patient matching via the Matchmaker Exchange
AU - Arachchi, Harindra
AU - Wojcik, Monica H.
AU - Weisburd, Benjamin
AU - Jacobsen, Julius O.B.
AU - Valkanas, Elise
AU - Baxter, Samantha
AU - Byrne, Alicia B.
AU - O'Donnell-Luria, Anne H.
AU - Haendel, Melissa
AU - Smedley, Damian
AU - MacArthur, Daniel G.
AU - Philippakis, Anthony A.
AU - Rehm, Heidi L.
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
KW - matchbox
KW - Matchmaker Exchange
KW - novel gene
KW - open-source
KW - rare disease
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U2 - 10.1002/humu.23655
DO - 10.1002/humu.23655
M3 - Article
C2 - 30240502
AN - SCOPUS:85054362005
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
ER -