The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Open accessAbstract
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.
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Cites
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Self-citationGenetic Mapping in Human Disease
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Cited by
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Self-citationExpansion of the Human Phenotype Ontology (HPO) knowledge base and resources
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“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).”
BackgroundSelf-citationWhole-genome sequencing of patients with rare diseases in a national health system
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Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.003 · Cited by 447
Self-citationThe Human Phenotype Ontology in 2024: phenotypes around the world
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Metadata
- Authors
- Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., Dumitriu, S., Dyke, S. O. M., den Dunnen, J. T., Firth, H. V., Gibbs, R. A., Girdea, M., Gonzalez, M., Haendel, M. A., Hamosh, A., Holm, I. A., Huang, L., Hurles, M. E., Hutton, B., Krier, J. B., Misyura, A., Mungall, C. J., Paschall, J., Paten, B., Robinson, P. N., Schiettecatte, F., Sobreira, N. L., Swaminathan, G. J., Taschner, P. E., Terry, S. F., Washington, N. L., Züchner, S., Boycott, K. M., & Rehm, H. L.
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2015-09-17
- Volume
- 36
- Issue
- 10
- Pages
- 915-921
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2161360183
- Cited by
- 469
- References
- 26
- FWCI
- 30.63
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., Brunner, H. G., Buske, O. J., Carey, K., Doll, C., Dumitriu, S., Dyke, S. O. M., den Dunnen, J. T., Firth, H. V., Gibbs, R. A., Girdea, M., Gonzalez, M., Haendel, M. A., Hamosh, A., . . . Rehm, H. L. (2015). The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation. https://doi.org/10.1002/humu.22858
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