Sergi Beltran, Head of the Bioinformatics Analysis Unit, is one of the authors of the overview article about the Matchmaker Exchange platform, published in this month’s issue of Human Mutation, the official journal of the Human Genome Variation Society.

The Matchmaker Exchange (MME) was launched in October 2013 by the Global Alliance for Genomics and Health (GA4GH) 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).

CNAG-CRG is part of the MME working group through RD-Connect, an EU funded project building an integrated platform connecting databases, registries biobanks and clinical bioinformatics for rare disease research.

The Challenge
In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing. Finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits in isolated databases.

The Solution
The MME project was launched to address this challenge and find genetic causes for patients with rare disease. This involves a large and growing number of teams and projects working towards a federated platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming interfaces (APIs) and procedural conventions.

The role of the CNAG-CRG
The CNAG-CRG team is testing the current version of the MME API in the RD-Connect platform and is part of the developers group working on adding functionalities to the API. A collaboration has also been started with GENESIS, due to the similarity with RD-Connect of the data stored within the platforms.

Other of the databases of the MME are PEER, Monarch Initiative, ClinGen Genome Connect, and DECIPHER among others.

Work of reference:
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery