Article
Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
Annual review of genomics and human genetics - 31 Aug 2020
Azzariti Danielle R, Hamosh Ada
Abstract excerpt
In the last decade, exome and/or genome sequencing has become a common test in the diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this test leaves the majority of tested individuals undiagnosed. This review describes the Matchmaker Exchange (MME), a federated network established to facilitate the solving of undiagnosed rare-disease cases through data sharing. MME...
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