Unravelling the human genome–phenome relationship using phenome-wide association studies

Cross-phenotype associations and pleiotropy have been identified in human studies.Phenome-wide association studies (PheWAS) are an emerging method to identify cross-phenotype associations.Phenomes have been characterized using electronic health records, which provide a real-time clinical representation of an individual's health conditions.Phenomes have also been developed by aggregating data from traditional epidemiological studies, which provide a snapshot of a participant's health, lifestyle and environmental exposures.PheWAS have been performed using data from clinical health records or from epidemiological studies; given that neither approach is designed to fully capture all aspects of the human phenome these approaches should be considered complementary.Active areas of research for PheWAS include the addition of diverse populations, establishment of 'genome–phenome-wide' significance, and development of methods for the analysis and visualization of these complex associations.