Article
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Human mutation - 1 Oct 2015
Buske Orion J, Girdea Marta, Dumitriu Sergiu, Gallinger Bailey, Hartley Taila, Trang Heather, Misyura Andriy, Friedman Tal, Beaulieu Chandree, Bone William P, Links Amanda E, Washington Nicole L, Haendel Melissa A, Robinson Peter N, Boerkoel Cornelius F, Adams David, Gahl William A, Boycott Kym M, Brudno Michael
Abstract excerpt
The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. To enable the secure sharing of case records by clinicians and rare disease scientists, we have developed the PhenomeCentral portal (https://phenomecentral.org). Each record...
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