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The Matchmaker Exchange: a platform for rare disease gene discovery
Anthony A Philippakis1,2,3, Danielle R Azzariti4, Sergi Beltran5
1The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
Human Mutation
|August 22, 2015
Summary
The Matchmaker Exchange (MME) facilitates rare disease gene discovery by connecting siloed datasets. This federated network uses a common API to systematically link genotypes and phenotypes, accelerating research.
Area of Science:
- Genomics
- Rare Diseases
- Bioinformatics
Background:
- Rare disease research is hindered by fragmented, small datasets.
- Discovering novel genetic causes of disease requires large, integrated data.
Purpose of the Study:
- To introduce the Matchmaker Exchange (MME) as a solution for rare disease gene discovery.
- To establish a federated network for connecting genotype and phenotype data.
Main Methods:
- Development of a common Application Programming Interface (API) for data integration.
- Creation of a federated network connecting disparate databases.
Main Results:
- The core components of the MME have been established.
- Three MME services are currently connected and available for use.
- Expansion of the MME network with additional databases is ongoing.
Conclusions:
- The MME provides a systematic and scalable approach to rare disease gene discovery.
- The federated network model enhances collaboration and accelerates research in rare diseases.
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