Conceptually, phenome-wide association studies (PheWAS) are the inverse of Genome-Wide Association Studies (GWAS). Whereas a GWAS investigates which of a million or more SNPs are associated with a single phenotype, a PheWAS investigates the association between genetic variation in a single gene with a wide range of phenotypes.
PheWAS enables the non-hypothesis driven investigation of the phenotypic consequences of normal variability of gene function in the human population. While similar in principle to investigations in knock-out animals (where a single gene is manipulated and multiple phenotypes examined), it probes the effects of smaller changes in gene function and has the obvious advantage of examining the human population directly.
PheWAS are typically used to investigate one of the following questions:
For more information on PheWAS, the implementation of PheWAS at Total Scientific or to discuss how PheWAS can help you, please contact us.