Distinct genetic architecture in the tails of complex traits
A recent study has revealed distinct genetic architectures in the tails of complex traits, highlighting the influence of rare variants. The research indicates that while complex traits are generally polygenic, their extreme values are shaped by selection pressures and rare alleles. This has significant implications for understanding genetic risk and predicting complex traits and diseases.
- ▪The study developed an approach using polygenic risk scores to analyze 74 quantitative traits.
- ▪Findings showed that rare alleles of large effect are key drivers of trait-tail architecture.
- ▪The research suggests that stabilizing selection plays a role in the observed genetic patterns.
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Download PDF Article Open access Published: 27 May 2026 Distinct genetic architecture in the tails of complex traits T. Souaiaia ORCID: orcid.org/0000-0003-3922-13721 na1, H. M. Wu ORCID: orcid.org/0000-0003-1559-75862 na1, A. P. S. Ori2,3, S. W. Choi2, C. J. Hoggart2 & …P. F. O’Reilly ORCID: orcid.org/0000-0001-7515-08452 Show authors Nature (2026) Cite this article 59 Altmetric Metrics details Subjects Evolutionary geneticsGenetic association studyGenetic variationRare variantsStatistical methods AbstractComplex traits are highly polygenic, with heritability explained by many hundreds of common variants of small effect together with rare variants of large effect1.
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