Uncovering complex trait heritability hidden in the repeatome

Cell Genom. 2023 Dec 13;3(12):100461. doi: 10.1016/j.xgen.2023.100461.

Abstract

Short tandem repeats (STRs) account for a substantial fraction of human genetic variation, but their contribution to complex human phenotypes is largely unknown. Margoliash et al. perform detailed genome-wide association analysis and fine-mapping of STRs in UK Biobank, identifying many STRs likely to influence variation in blood and serum traits.

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