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Twenty years of genome-wide association studies

A powerful and unbiased way to identify links between genetic variants and biological traits has changed scientists’ understanding of complex diseases and how to treat them.
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  1. Lorraine Southam

    1. Lorraine Southam is at the Institute of Translational Genomics, Computational Health Center, Helmholtz Munich — German Research Center for Environmental Health, Neuherberg 85764, Germany.

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  2. Eleftheria Zeggini

    1. Eleftheria Zeggini is at the Institute of Translational Genomics, Computational Health Center, Helmholtz Munich — German Research Center for Environmental Health, Neuherberg 85764, Germany, and at the Technical University of Munich (TUM) and Rechts der Isar Hospital, TUM School of Medicine and Health, Munich 81675, Germany.

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Twenty years ago, Klein et al.1 published a landmark paper in Science, describing one of the first genome-wide association studies (GWAS). This genomics approach has transformed scientists’ ability to identify relationships between a person’s genetic background (genotype) and their characteristics (phenotype), particularly in the context of disease.

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doi: https://doi.org/10.1038/d41586-025-01128-6

References

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Competing Interests

The authors declare no competing interests.

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