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.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$189.00 per year
only $15.75 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Press, M. O., Carlson, K. D. & Queitsch, C. The overdue promise of short tandem repeat variation for heritability. Trends Genet. 30, 504–512 (2014).
Tanudisastro, H. A. et al. Sequencing and characterizing short tandem repeats in the human genome. Nat. Rev. Genet. https://doi.org/10.1038/s41576-024-00692-3 (2024).
Beyter, D. et al. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. Nat. Genet. 53, 779–786 (2021).
Ziaei Jam, H. et al. A deep population reference panel of tandem repeat variation. Nat. Commun. 14, 6711 (2023).
Mukamel, R. E. et al. Protein-coding repeat polymorphisms strongly shape diverse human phenotypes. Science 373, 1499–1505 (2021).
Margoliash, J. et al. Polymorphic short tandem repeats make widespread contributions to blood and serum traits. Cell Genom. 3, 100458 (2023).
Manigbas, C. A. et al. A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank. Preprint at medRxiv https://doi.org/10.1101/2024.01.22.24301630 (2024).
Jakubosky, D. et al. Properties of structural variants and short tandem repeats associated with gene expression and complex traits. Nat. Commun. 11, 2927 (2020).
Martin-Trujillo, A. et al. Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation. Genome Res. 33, 184–196 (2023).
Hamanaka, K. et al. Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans. Genome Res. 33, 435–447 (2023).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
Rights and permissions
About this article
Cite this article
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
Published:
DOI: https://doi.org/10.1038/s41576-024-00736-8