Denny JC, Bastarache L, Roden DM. Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. Annual review of genomics and human genetics. 2016 Aug 31;17(17). 353-73. PMID: 27147087 [PubMed]
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.