ReviewHuman genetics2020
Evolutionary perspectives on polygenic selection, missing heritability, and GWAS.
Review in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- An introduction to polygenic scores - methodological basics and recent advances.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- The effect of long-range linkage disequilibrium on allele-frequency dynamics under stabilizing selection.PLoS genetics · 2026Article
- Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants.NPJ genomic medicine · 2025Article
- Genetic Analysis and Predictive Modeling of COVID-19 Severity in a Hospital-Based Patient Cohort.Biomolecules · 2025Article
- Article
- Supergenes are not necessary to explain the maintenance of complex alternative phenotypes.Proceedings. Biological sciences · 2024Article
- Characterizing the polygenic architecture of complex traits in populations of East Asian and European descent.Human genomics · 2023Article
- Estimation of indirect genetic effects and heritability under assortative mating.bioRxiv : the preprint server for biology · 2023Article
- Heritability Estimation Approaches Utilizing Genome-Wide Data.Current protocols · 2023Review
- From genetic variation to precision medicine.Cambridge prisms. Precision medicine · 2023Article
- Competition-cooperation mechanism betweenFrontiers in microbiology · 2023Article
- Mosaic patterns of selection in genomic regions associated with diverse human traits.PLoS genetics · 2022Article
- Article
- Discovering missing heritability in whole-genome sequencing data.Nature genetics · 2022Article
- Linking the genomic signatures of human beat synchronization and learned song in birds.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2021Article
- Article
- Meta-analysis: Congruence of genomic and phenotypic differentiation across diverse natural study systems.Evolutionary applications · 2021Article
- Genomics of Endometriosis: From Genome Wide Association Studies to Exome Sequencing.International journal of molecular sciences · 2021Review
- Negative selection on complex traits limits phenotype prediction accuracy between populations.American journal of human genetics · 2021Article
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1 author.
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Abstract
Genome-wide association studies (GWAS) have successfully identified many trait-associated variants, but there is still much we do not know about the genetic basis of complex traits. Here, we review recent theoretical and empirical literature regarding selection on complex traits to argue that "missing heritability" is as much an evolutionary problem as it is a statistical problem. We discuss empirical findings that suggest a role for selection in shaping the effect sizes and allele frequencies of causal variation underlying complex traits, and the limitations of these studies. We then use simulations of selection, realistic genome structure, and complex human demography to illustrate the results of recent theoretical work on polygenic selection, and show that statistical inference of causal loci is sharply affected by evolutionary processes. In particular, when selection acts on causal alleles, it hampers the ability to detect causal loci and constrains the transferability of GWAS results across populations. Last, we discuss the implications of these findings for future association studies, and suggest that future statistical methods to infer causal loci for genetic traits will benefit from explicit modeling of the joint distribution of effect sizes and allele frequencies under plausible evolutionary models.
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