Harmonizing patient electronic medical records with genetic data to gain novel biomedical insights

A traditional Genome-Wide Association Study (GWAS) evaluates association between a single trait and all variants across the genome. The availability of Electronic Medical Records (EMR) allows for GWAS across a range of traits spanning many possible phenotypes. This gives rise to the Phenome-Wide Association Study (PheWAS)—evaluating association of a single genetic marker with multiple phenotypes.

Genotyping on an Illumina HumanCoreExome array, applying HRC imputation, and combining around 1500 EMR-based phenotypes leads to PheWAS analysis across ~30 million genetic variants.

See PheWAS in Action

Below is an interactive example of PheWAS. Select a variant from the list to see the the association values for all available phenotypes. Click individual points on the plot for more information about specific phenotypes. The Genomic Position legend below shows where within the extend of the human genome the particular variant can be found. Below that is a visualization of several of the genes in the 500 kilobase region centered on the variant.

Select a variant: