Article
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2020
Chang Willie H, Mashouri Pouria, Lozano Alexander X, Johnstone Brittney, Husić Mia, Olry Annie, Maiella Sylvie, Balci Tugce B, Sawyer Sarah L, Robinson Peter N, Rath Ana, Brudno Michael
Abstract excerpt
PURPOSE: Computational documentation of genetic disorders is highly reliant on structured data for differential diagnosis, pathogenic variant identification, and patient matchmaking. However, most information on rare diseases (RDs) exists in freeform text, such as academic literature. To increase availability of structured RD data, we developed a crowdsourcing approach for collecting phenotype information using...
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