Article
The Matchmaker Exchange: a platform for rare disease gene discovery.
Human mutation - 1 Oct 2015
Philippakis Anthony A, Azzariti Danielle R, Beltran Sergi, Brookes Anthony J, Brownstein Catherine A, Brudno Michael, Brunner Han G, Buske Orion J, Carey Knox, Doll Cassie, Dumitriu Sergiu, Dyke Stephanie O M, den Dunnen Johan T, Firth Helen V, Gibbs Richard A, Girdea Marta, Gonzalez Michael, Haendel Melissa A, Hamosh Ada, Holm Ingrid A, Huang Lijia, Hurles Matthew E, Hutton Ben, Krier Joel B, Misyura Andriy, Mungall Christopher J, Paschall Justin, Paten Benedict, Robinson Peter N, Schiettecatte François, Sobreira Nara L, Swaminathan Ganesh J, Taschner Peter E, Terry Sharon F, Washington Nicole L, Züchner Stephan, Boycott Kym M, Rehm Heidi L
Abstract excerpt
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...
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