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Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking
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  • Kym Boycott,
  • Danielle Azzariti,
  • Ada Hamosh,
  • Heidi Rehm
Kym Boycott
Children’s Hospital of Eastern Ontario Research Institute

Corresponding Author:[email protected]

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Danielle Azzariti
Broad Institue of MIT and Harvard
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Ada Hamosh
Johns Hopkins University
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Heidi Rehm
Massachusetts General Hospital
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Abstract

The Matchmaker Exchange (MME) launched in 2015 to provide a robust mechanism to discover novel disease-gene relationships. This federated network connects databases holding relevant data, where two or more users are looking for a match for the same gene (two-sided matchmaking). The number of unique genes present across MME has steadily increased; there are currently >13,520 unique genes (~68% of all protein coding genes) connected across MME’s nodes, GeneMatcher, DECIPHER, PhenomeCentral, MyGene2, seqr, Initiative on Rare and Undiagnosed Disease, PatientMatcher, and the RD-Connect Genome-Phenome Analysis Platform. The dataset accessible across MME includes more than 120,000 cases from over 12,000 contributors in 98 countries. Discovery of potential new disease-gene relationships occurs daily and international collaborations are moving these connections forward to publication. Expansion of data sharing into routine clinical practice has ensured access to discovery for even more individuals with undiagnosed rare genetic disease. MME supports connections to the literature (PubCaseFinder) and to human and model organism resources (Monarch Initiative) and scientists (ModelMatcher). Efforts are underway to explore additional approaches to matchmaking where there is only one querier (one-sided matchmaking). Genomic matchmaking has proven its utility over the past 7 years and will continue to facilitate discoveries in years to come.
11 Mar 2022Submitted to Human Mutation
12 Mar 2022Submission Checks Completed
12 Mar 2022Assigned to Editor
16 Mar 2022Reviewer(s) Assigned
21 Mar 2022Review(s) Completed, Editorial Evaluation Pending
22 Mar 2022Editorial Decision: Accept
10 May 2022Published in Human Mutation. 10.1002/humu.24373