Phenotype validation in electronic health records based genetic association studies.
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ABSTRACT:
SUBMITTER: Wang L
PROVIDER: S-EPMC5891135 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Publications
Phenotype validation in electronic health records based genetic association studies.
Wang Lu L Damrauer Scott M SM Zhang Hong H Zhang Alan X AX Xiao Rui R Moore Jason H JH Chen Jinbo J
Genetic epidemiology 20171011 8
The linkage between electronic health records (EHRs) and genotype data makes it plausible to study the genetic susceptibility of a wide range of disease phenotypes. Despite that EHR-derived phenotype data are subjected to misclassification, it has been shown useful for discovering susceptible genes, particularly in the setting of phenome-wide association studies (PheWAS). It is essential to characterize discovered associations using gold standard phenotype data by chart review. In this work, we ...[more]
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