Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing
Theodore J. Morley, Lide Han, Victor Manuel Castro, Jonathan H. Morra, Roy H. Perlis, Nancy Jean Cox, Lisa A. Bastarache, Douglas M. Ruderfer
The paper develops a model to identify patients likely to have a genetic disease using EHR data, achieving high accuracy in predicting genetic testing needs.
Nature Medicine · Jun 1, 2021Peer-reviewedGenetic & Genomic Medicine