The Principle of a Genome-wide Association Study (GWAS)
Description
This template was adapted from the original submission. Edits were made to enhance scientific accuracy, optimal usability and/or to meet industry-leading design standards for science communication.
A genome-wide association study (GWAS) is a hypothesis-free way of identifying genome regions associated with a trait, and requires data on genetics and a trait of interest for individuals from a population. GWAS consist of single-variant association tests for variants across the genome, but a significant association only means that a proxy for a causal variant was found. GWAS can confirm prior, and identify novel associations, and post-GWAS analyses can determine how the regions affect the trait.
Acknowledgements
References
Visscher, P.M., et al. (2017) 10 Years of GWAS Discovery: Biology, Function, and Translation. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2017.06.005
McCarthy, M.I., et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Reviews Genetics. https://www.nature.com/articles/nrg2344
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