Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Abstract 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...

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Bibliographic Details
Main Authors: Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin, Paul Avillach
Format: Article
Language:English
Published: BMC 2022-03-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Rare disease
Genetic disease
Computational phenotype
Electronic health records
Autism
Online Access:https://doi.org/10.1186/s11689-022-09434-0

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