The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
By Anthony Philippakis, Danielle R Azzariti, S. Beltran, Anthony J. Brookes, Catherine A Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll and 28 more. Human Mutation, 2015
453 citations recorded by the source corpus.
There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for “the needle in a haystack” to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease‐specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can “match” these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.
Subfields: Cancer Research, Genetics
View Paper: https://www.semanticscholar.org/paper/196a533907e33cf262aca25d162bfcb3425fef5d
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In Genetics
- Peter N. Robinson
- Melissa A. Haendel
- Sebastian Köhler
- J. Caufield
- Ada Hamosh
- Deborah A. Nickerson
- Michael Bamshad
- Stefan Mundlos
Citations in the corpus
- Mendelian Gene Discovery: Fast and Furious with No End in Sight. (2019, background): “Over the past decade, a growing number of web-based platforms and databases to support data sharing have been developed and linked to one another via a federated network called the MatchMaker Exchange (MME) 33 in order to facilitate matching of candidate genes.”
- The Human Phenotype Ontology in 2024: phenotypes around the world (2023, background): “…unites an ever-growing community of users and contributors across the world, illuminating the natural history of disease, revealing new diseases, supporting patient registries and n-of-1 matchmaking for diagnosis ( 2 ) and aiding numerous national genomic initiatives and biobanking programs ( 3 ) .”
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources (2018, background): “The HPO recently achieved status as an International Rare Disease Research Consortium (IRDiRC) recognized resource and is in use by the Global Alliance for Genomics and Health (10) and the associated Matchmaker Exchange (3,11).”