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Article

Phenotype validation in electronic health records based genetic association studies.

Genetic epidemiology - 1 Dec 2017

Wang Lu, Damrauer Scott M, Zhang Hong, Zhang Alan X, Xiao Rui, Moore Jason H, Chen Jinbo

Abstract excerpt

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...

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Electronic Health Records
Gene Frequency
Genome-Wide Association Study
Genotype
Models, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

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PMID: 29023970
DOI: 10.1002/gepi.22080
PMCID: PMC5891135

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