The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology

Genome-wide association studies (GWAS) studies have successfully identified thousands of genetic variants reliably associated with human traits. Albeit restricted to certain variant frequencies, this has led to an improvement in our understanding of the genetic architecture of complex traits and diseases. The availability of large genomic biobanks such as the UK Biobank (UKBB) study have brought substantial analytical power to association studies.
The dramatic expansion of GWAS sample sizes improves power of estimation of effect sizes, genomic prediction and the potential for applied analyses such as those relating to causal inference. However, in the same moment, the availability of substantial analytical power and enabling analytical capacity can increase the complications and inferential complexity associated with GWAS and other applied analyses. In this review, we discuss the revolutionary impact that UKBB has had in the GWAS era and some of the opportunities and challenges of using data from this world-leading study.