Seven years since the launch of the Matchmaker Exchange: the evolution
of genomic matchmaking
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.