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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
2015
Human Mutation
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
doi:10.1002/humu.22858
pmid:26295439
pmcid:PMC4610002
fatcat:f5r4wjy3rjcyngkpnfuvbqaeey