Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease.
The Phenotype Risk Score (PheRS) is a method to detect Mendelian disease patterns using phenotypes from the electronic health record (EHR). We compared the performance of different approaches mapping EHR phenotypes to Mendelian disease features.
Author(s): Bastarache, Lisa, Hughey, Jacob J, Goldstein, Jeffrey A, Bastraache, Julie A, Das, Satya, Zaki, Neil Charles, Zeng, Chenjie, Tang, Leigh Anne, Roden, Dan M, Denny, Joshua C
DOI: 10.1093/jamia/ocz179