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GENETIC VARIATION

Fine-mapping causal variants — why finding ‘the one’ can be futile

Nature Reviews Genetics volume 23, page 261 (2022)Cite this article

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Genome-wide association studies (GWAS) identify genomic regions that are associated with complex phenotypes. However, the identified genomic regions are often broad, making it difficult to identify the particular genetic variants within the loci that are causal. A new study uses massively parallel reporter assays (MRPAs) to dissect the roles of individual genetic variants and reveals that human genetic associations are often driven by multiple genetic variants acting together within an associated locus.

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References

Original article

  • Abell, N. S. et al. Multiple causal variants underlie genetic associations in humans. Science 375, 1247–1254 (2022)

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  1. Nature Reviews Genetics http://www.nature.com/nrg/

    Darren J. Burgess

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  1. Darren J. Burgess
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Correspondence to Darren J. Burgess.

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Burgess, D.J. Fine-mapping causal variants — why finding ‘the one’ can be futile. Nat Rev Genet 23, 261 (2022). https://doi.org/10.1038/s41576-022-00484-7

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  • DOI: https://doi.org/10.1038/s41576-022-00484-7

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