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, Danielle Posthuma

Research output: Contribution to JournalArticleAcademic


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 basis and how they are conducted, describe state- of- the art approaches and discuss limitations and challenges, concluding with an overview of the current and future applications for GWAS results.
Original languageEnglish
Article number59
Pages (from-to)1-21
Number of pages21
JournalNature Reviews Methods Primers
Publication statusPublished - 26 Aug 2021


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