Nature Communications (Dec 2022)

Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes

  • Frank R. Wendt,
  • Gita A. Pathak,
  • Renato Polimanti

DOI
https://doi.org/10.1038/s41467-022-35423-x
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 11

Abstract

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In UK Biobank exomes, the authors identified de novo mutations in tandem repeat loci. On the population level, these tandem repeats confer large effects on several trait domains including biomarkers, anthropometrics, and tissue microstructures.