Article
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.
Journal of neurodevelopmental disorders - 23 Mar 2022
Kothari Cartik, Srivastava Siddharth, Kousa Youssef, Izem Rima, Gierdalski Marcin, Kim Dongkyu, Good Amy, Dies Kira A, Geisel Gregory, Morizono Hiroki, Gallo Vittorio, Pomeroy Scott L, Garden Gwenn A, Guay-Woodford Lisa, Sahin Mustafa, Avillach Paul
Abstract excerpt
BACKGROUND: Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnosed by genetic testing, computational phenotypes identify patient cohorts for genetic testing and possible diagnosis. This article details the validation of a computational phenotype for PTEN...
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