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The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology.
Tan, Vanessa Y; Timpson, Nicholas J.
  • Tan VY; Medical Research Council (MRC) Integrative Epidemiology Unit, University of Bristol, Bristol, United Kingdom; email: n.j.timpson@bristol.ac.uk.
  • Timpson NJ; Bristol Medical School, University of Bristol, Bristol, United Kingdom.
Annu Rev Genomics Hum Genet ; 23: 569-589, 2022 08 31.
Article in English | MEDLINE | ID: covidwho-2032558
ABSTRACT
Genome-wide association studies (GWASs) have successfully identified thousands of genetic variants that are reliably associated with human traits. Although GWASs are restricted to certain variant frequencies, they have improved our understanding of the genetic architecture of complex traits and diseases. The UK Biobank (UKBB) has brought substantial analytical opportunity and performance to association studies. The dramatic expansion of many GWAS sample sizes afforded by the inclusion of UKBB data has improved the power of estimation of effect sizes but, critically, has done so in a context where phenotypic depth and precision enable outcome dissection and the application of epidemiological approaches. However, at the same time, the availability of such a large, well-curated, and deeply measured population-based collection has the capacity to increase our exposure to the many complications and inferential complexities associated with GWASs and other analyses. In this review, we discuss the impact that UKBB has had in the GWAS era, some of the opportunities that it brings, and exemplar challenges that illustrate the reality of using data from this world-leading resource.
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Full text: Available Collection: International databases Database: MEDLINE Main subject: Biological Specimen Banks / Genome-Wide Association Study Type of study: Observational study / Prognostic study Topics: Variants Limits: Humans Country/Region as subject: Europa Language: English Journal: Annu Rev Genomics Hum Genet Journal subject: Genetics / Genetics, Medical Year: 2022 Document Type: Article

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Full text: Available Collection: International databases Database: MEDLINE Main subject: Biological Specimen Banks / Genome-Wide Association Study Type of study: Observational study / Prognostic study Topics: Variants Limits: Humans Country/Region as subject: Europa Language: English Journal: Annu Rev Genomics Hum Genet Journal subject: Genetics / Genetics, Medical Year: 2022 Document Type: Article