Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution?

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Genetic association data from national biobanks and large-scale association studies have provided new prospects for understanding the genetic evolution of complex traits and diseases in humans. In turn, genomes from ancient human archaeological remains are now easier than ever to obtain, and provide a direct window into changes in frequencies of trait-associated alleles in the past. This has generated a new wave of studies aiming to analyse the genetic component of traits in historic and prehistoric times using ancient DNA, and to determine whether any such traits were subject to natural selection. In humans, however, issues about the portability and robustness of complex trait inference across different populations are particularly concerning when predictions are extended to individuals that died thousands of years ago, and for which little, if any, phenotypic validation is possible. In this review, we discuss the advantages of incorporating ancient genomes into studies of trait-associated variants, the need for models that can better accommodate ancient genomes into quantitative genetic frameworks, and the existing limits to inferences about complex trait evolution, particularly with respect to past populations.

Original languageEnglish
Article number703541
JournalFrontiers in Genetics
Number of pages11
Publication statusPublished - 2021

Bibliographical note

Publisher Copyright:
© Copyright © 2021 Irving-Pease, Muktupavela, Dannemann and Racimo.

    Research areas

  • aDNA, complex traits, GWAS, paleogenetics, polygenic adaptation

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