Insights into human evolution from large genetic biobanks
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 constraint 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.
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BibTeX
@misc{spence2026insights,
title = {{Insights into human evolution from large genetic biobanks}},
author = {Jeffrey P. Spence and Roshni A. Patel},
howpublished = {arXiv},
year = {2026},
month = sep,
doi = {10.48550/arxiv.2609.12297},
eprint = {2609.12297},
archivePrefix = {arXiv},
url = {https://arxiv.org/abs/2609.12297},
note = {CC BY-NC-SA 4.0},
}
RIS
TY - UNPB
TI - Insights into human evolution from large genetic biobanks
AU - Jeffrey P. Spence
AU - Roshni A. Patel
PY - 2026
DA - 2026/09/10
PB - arXiv
DO - 10.48550/arxiv.2609.12297
UR - https://arxiv.org/abs/2609.12297
AB - 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 constraint 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.
ER -