Skip to main content
. Author manuscript; available in PMC: 2016 Jun 1.
Published in final edited form as: Curr Genet Med Rep. 2015 Jun 1;3(2):92–100. doi: 10.1007/s40142-015-0067-9

Figure 1. Overview of PheWAS.

Figure 1

PheWAS can be used to evaluate the association between a comprehensive set of phenotypes and genetic variation. A relational database is useful for organizing and working with the phenotypic data. The phenotypic data can be collected through multiple types of studies, including epidemiological studies, de-identified electronic health records, clinical trials data, and animal breeding research. Genetic variation can be single nucleotide polymorphisms (SNPs), but any genetic variation that can be evaluated for association with phenotypic variation can be used. The association testing results can be evaluated multiple ways, and while not shown, a relational database can assist with analyses of results. Novel discoveries can be identified along with cross-phenotype associations. Networks of connections between SNPs, genes, phenotypes, can be explored. These results can provide more information about the genetic architecture of complex traits, highlight biologically important pleiotropy, and can support drug discovery.