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

Y Tan, Nicholas John Timpson*

*Corresponding author for this work

Research output: Contribution to journalReview article (Academic Journal)peer-review

14 Citations (Scopus)
126 Downloads (Pure)

Abstract

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.
Original languageEnglish
Pages (from-to)569-589
Number of pages24
JournalAnnual Review of Genomics and Human Genetics
Volume23
Early online date4 May 2022
DOIs
Publication statusPublished - 1 Aug 2022

Bibliographical note

Funding Information:
N.J.T. is aWellcome Trust Investigator (202802/Z/16/Z), is the principal investigator of the Avon Longitudinal Study of Parents and Children (MRC andWellcome Trust 217065/Z/19/Z), is supported by the University of BristolNIHR Biomedical Research Centre (BRC-1215-2001) and the MRC IEU (MC_UU_00011/1), and works within the Cancer Research UK Integrative Cancer Epidemiology Programme (C18281/A29019). V.Y.T. is supported by the Cancer Research UK Integrative Cancer Epidemiology Programme (C18281/A29019)

Publisher Copyright:
Copyright © 2022 by Annual Reviews.

Research Groups and Themes

  • ICEP

Fingerprint

Dive into the research topics of 'The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology'. Together they form a unique fingerprint.

Cite this