publication . Other literature type . Article . 2016

Phenome-Wide Association Studies as a Tool to Advance Precision Medicine

Name: Phenome-Wide Association Studies as a Tool to Advance Precision Medicine
Keywords: Article

Joshua C. Denny; Dan M. Roden; Lisa Bastarache;

Open Access

Published: 31 Aug 2016

Publisher: Annual Reviews

Summary

Abstract

Beginning in the early 2000s, the accumulation of biospecimens linked to electronic health records (EHRs) made possible genome-phenome studies (i.e., comparative analyses of genetic variants and phenotypes) using only data collected as a by-product of typical health care. In addition to disease and trait genetics, EHRs proved a valuable resource for analyzing pharmacogenetic traits and developing reverse genetics approaches such as phenome-wide association studies (PheWASs). PheWASs are designed to survey which of many phenotypes may be associated with a given genetic variant. PheWAS methods have been validated through replication of hundreds of known genotype-p...

doi: 10.1146/annurev-genom-090314-024956

pmc: PMC5480096

pmid: 27147087

Subjects

free text keywords: Article, Trait, Genetic association, Genetics, Genome-wide association study, Computational biology, Disease, Research data, Phenome, Biology, Precision medicine, Health care, business.industry, business

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