Article
PhenomeCentral: 7 years of rare disease matchmaking.
Human mutation - 1 Jun 2022
Osmond Matthew, Hartley Taila, Johnstone Brittney, Andjic Sasha, Girdea Marta, Gillespie Meredith, Buske Orion, Dumitriu Sergiu, Koltunova Veronika, Ramani Arun, Boycott Kym M, Brudno Michael
Abstract excerpt
A major challenge in validating genetic causes for patients with rare diseases (RDs) is the difficulty in identifying other RD patients with overlapping phenotypes and variants in the same candidate gene. This process, known as matchmaking, requires robust data sharing solutions to be effective. In 2014 we launched PhenomeCentral, a RD data repository capable of collecting computer-readable genotypic and...
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