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The emerging role of tandem repeats in complex traits

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Tandem repeats are a large source of genetic variation but are challenging to analyse and have been missing from most genome-wide studies. Results now suggest that systematic incorporation of tandem repeats into complex trait analyses is likely to yield a rich source of causal variants and new biological insights.

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Fig. 1: A subset of association signals identified by GWAS may be driven by polymorphic TRs.

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Correspondence to Melissa Gymrek.

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Lamkin, M., Gymrek, M. The emerging role of tandem repeats in complex traits. Nat Rev Genet (2024). https://doi.org/10.1038/s41576-024-00736-8

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