Insights into human evolution from large genetic biobanks.

Authors

Jeffrey P Spence, Roshni A Patel

Published in

Current opinion in genetics & development. Volume 101. Pages 102545. Sep 29, 2026. Epub Sep 29, 2026.

Abstract

The development of large genetic biobanks with deep phenotyping and whole-exome or whole-genome sequencing is enabling an ever-deeper understanding of human evolution. Here, we review recent developments in two main research directions: (1) using the increasing sample sizes to infer extremely strong evolutionary constraints and (2) leveraging biobanks' extensive phenotyping to relate the effects of natural selection on variants to their impacts on traits. In particular, there has been recent progress in gene-specific estimates of the strength of selection acting against loss-of-function mutations, as well as growing evidence supporting the importance of pleiotropic stabilizing selection on traits in shaping patterns of genetic diversity. We also discuss how these findings are, in turn, improving our understanding and interpretation of the genetic associations discovered in biobanks. Throughout, we outline open questions and promising directions for future research.

PMID:
42810053
Bibliographic data and abstract were imported from PubMed on 30 Sep 2026.

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