17 Phenome-Wide Association Study

Given the large biobanks available nowadays that have also genotyped the participants and collected a vast-array of information on them, it is possible to perform a Phenome-Wide Association Study.

There are several options in (Table 17.1).

Table 17.1: PheWAS Resources.
Site Description
https://atlas.ctglab.nl 4,155 GWAS based on UK Biobank release 2
https://biobankengine.stanford.edu UK Biobank based
http://pheweb.sph.umich.edu University of Michigan EHR-based PheWAS
http://pheweb.sph.umich.edu/SAIGE-UKB/ 1,403 GWAS UK Biobank based
http://phewas.mrbase.org UK Biobank based

Assignment

  1. Perform a PheWAS with a few of the resources and your favorite SNP from this tutorial.
  2. Compare the different websites. What do you notice?
  3. How is a PheWAS informative?

17.1 What’s next?

You now know to what other traits, risk factors and diseases our trait of interest (coronary artery disease) is correlated. An obvious next question would be: is this a causal correlation? We will cover this aspect in the next Chapters with MRBase (@ref(mr_mrbase)) and TwoSampleMR (@ref(mr_twosamplemr)). To return to the previous Chapter on post-GWAS analyses click 15">here.