Current Scope and Challenges in Phenome-Wide Association Studies

Current Scope and Challenges in Phenome-Wide Association Studies Curr Epidemiol Rep (2017) 4:321–329 GENETIC EPIDEMIOLOGY (C AMOS, SECTION EDITOR) Current Scope and Challenges in Phenome-Wide Association Studies 1,2 1,2,3 Anurag Verma & Marylyn D. Ritchie Published online: 2 November 2017 Springer International Publishing AG 2017 Abstract PheWAS approach appears promising, there are a number of Purpose of Review Over many decades, researchers have challenges that need to be addressed to provide additional been designing studies to investigate the relationship between robustness to PheWAS findings. genotypes and phenotypes to gain an understanding about the effect of genetics on disease. Recently, a high-throughput ap- Keywords Phenome-wide association studies (PheWAS) proach called phenome-wide associations studies (PheWAS) Phenotyping International Classification of Disease have been extensively used to identify associations between (ICD) codes Electronic health record (EHR) genetic variants and many diseases and traits simultaneously. In this review, we describe the value of PheWAS along with methodological issues and challenges in interpretation for cur- rent applications of PheWAS. Introduction Recent Findings PheWAS have uncovered a paradigm to identify new associations for genetic loci across many dis- In an emerging clinical discipline called precision medicine, eases. The application of PheWAS has been effective with the primary focus is to use an individual’s Current Epidemiology Reports Springer Journals

Current Scope and Challenges in Phenome-Wide Association Studies

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Springer International Publishing
Copyright © 2017 by Springer International Publishing AG
Medicine & Public Health; Epidemiology
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