Pulse Brain · Growing Health Evidence Index
Peer-reviewed

Genome-wide association studies

Emil Uffelmann, Qin Qin Huang, Nchangwi Syntia Munung, Jantina de Vries, Yukinori Okada, Alicia R. Martin, Hilary C. Martin, Tuuli Lappalainen, Daniëlle Posthuma

Nature Reviews Methods Primers · 2021

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Summary

Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants across many genomes to find those statistically associated with a specific trait or disease. This methodology has generated a myriad of robust associations for a range of traits and diseases, and the number of associated variants is expected to grow steadily as GWAS sample sizes increase. GWAS results have a range of applications, such as gaining insight into a phenotype's underlying biology, estimating its heritability, calculating genetic correlations, making clinical risk predictions, informing drug development programmes and inferring potential causal relationships between risk factors and health outcomes. In this Primer, we provide the reader with an introduction to GWAS, explaining their statistical

Source type
Peer-reviewed study
DOI
10.1038/s43586-021-00056-9
Catalogue ID
SNmohbb1x6-2gzrph
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