Oral Presentation 39th Annual Lorne Genome Conference 2018

PheWAS in Populations: Exploring the relationship between the genome and the phenome (#38)

Marylyn Ritchie 1
  1. University of Pennsylvania, Philadelphia, PA, United States

Genome-wide Association Studies (GWAS) have provided a wealth of information about the relationship between common genetic variants (SNPs) and specific diseases and traits.  From these studies, we have generated new knowledge regarding regions of the genome that are associated with common traits and the importance of the non-coding regions of the genome.  In Phenome-Wide Association Studies (PheWAS), we simultaneously assess the relationship between the genome and the entire phenome, rather than one trait at a time, to gain a better understanding of the architecture of complex traits.  Multiple PheWAS have been conducted and published across many different population-based studies.  Interesting patterns emerge based on the population under investigation, as well as the nature of the genome data and the phenome data used.  In this presentation, I will discuss these population-based PheWAS, specifically focusing on interesting relationships that vary by population.  The methodologies for PheWAS are still in their infancy and more sophisticated techniques are needed to increase our ability to more fully understand the relationship between the genome and the phenome.