Phenotype validation in electronic health records based genetic association studies.

ABSTRACT: 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 propose a genotype stratified case-control sampling strategy to select subjects for phenotype validation. We develop a closed-form maximum-likelihood estimator for the odds ratio parameters and a score statistic for testing genetic association using the combined validated and error-prone EHR-derived

SUBMITTER: Wang L 

PROVIDER: S-EPMC5891135 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature