The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Open Access
- 13 August 2015
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 36 (10), 915-921
- https://doi.org/10.1002/humu.22858
Abstract
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.Funding Information
- National Institutes of Health (Too many to fit in this window)
- Patient-Centered Outcomes Research Institute (PPRN-1306-04899)
- Robert Wood Johnson Foundation (71636)
- Canadian Institutes of Health Research (EP1-120608; EP2-120609)
- Wellcome Trust (WT098051)
- U.S. Department of Energy (DE-AC02-05CH11231)
- European Union Seventh Framework Programme (305444)
This publication has 26 references indexed in Scilit:
- Mitigating False-Positive Associations in Rare Disease Gene DiscoveryHuman Mutation, 2015
- PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic DiseasesHuman Mutation, 2015
- Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHERHuman Mutation, 2015
- Data Sharing in the Undiagnosed Diseases NetworkHuman Mutation, 2015
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same GeneHuman Mutation, 2015
- Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access ContextsHuman Mutation, 2015
- NovelCOL2A1Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu TypeHuman Mutation, 2015
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeScience Translational Medicine, 2014
- DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersHuman Molecular Genetics, 2012
- PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associationsBioinformatics, 2010