PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Issue 10 (31st August 2015) - Buske, Orion J.
Abstract To enable the secure sharing of patient records between clinicians and rare disease scientists, we developed PhenomeCentral (https://phenomecentral.org), a restricted access portal for sharing de‐identified patient phenotype and genotype data to find similar cases around the world. PhenomeCentral identifies similar patients based on semantic similarity between clinical features, automatically prioritized genes from whole‐exome data, and candidate genes entered by the users, enabling both hypothesis‐free and hypothesis‐driven patient matchmaking.