Lisa Bastarache, Jacob J. Hughey, Jeffrey A. Goldstein, Julie A. Bastraache, Satya Das, Neil Charles Zaki, Chenjie Zeng, Leigh Anne Tang, Dan M. Roden, Joshua C. Denny. Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease. JAMIA, 26(12):1437-1447, 2019. [doi]
Abstract is missing.