ArticleEvolution letters2019
An evolutionary compass for detecting signals of polygenic selection and mutational bias.
Article in Evolution letters, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 41 citations in OpenAlex.
- Representation in genetic studies affects inference about genetic architecture.bioRxiv : the preprint server for biology · 2026Article
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- Polaris: Polarization of ancestral and derived polymorphic alleles for inferences of extended haplotype homozygosity in human populations.Bioinformatics (Oxford, England) · 2025Article
- Evaluating ARG-estimation methods in the context of estimating population-mean polygenic score histories.Genetics · 2025Article
- Evaluating ARG-estimation methods in the context of estimating population-mean polygenic score histories.bioRxiv : the preprint server for biology · 2024Article
- Forensic height estimation using polygenic score in Korean population.Molecular genetics and genomics : MGG · 2024Article
- Genotype-by-environment interactions and local adaptation shape selection in the US National Chip Processing Trial.TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik · 2024Article
- Structure-informed clustering for population stratification in association studies.BMC bioinformatics · 2023Article
- Mosaic patterns of selection in genomic regions associated with diverse human traits.PLoS genetics · 2022Article
- Using singleton densities to detect recent selection inEvolution letters · 2021Article
- Geographic variation in the polygenic score of height in Japan.Human genetics · 2021Article
- Negative selection on complex traits limits phenotype prediction accuracy between populations.American journal of human genetics · 2021Article
- Disentangling selection on genetically correlated polygenic traits via whole-genome genealogies.American journal of human genetics · 2021Article
- The evolution of group differences in changing environments.PLoS biology · 2021Article
- Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution?Frontiers in genetics · 2021Review
- Article
- Evolutionary perspectives on polygenic selection, missing heritability, and GWAS.Human genetics · 2020Review
- Accurate estimation of SNP-heritability from biobank-scale data irrespective of genetic architecture.Nature genetics · 2019Article
- Exploiting selection at linked sites to infer the rate and strength of adaptation.Nature ecology & evolution · 2019Article
- Article
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Authors and funding
4 authors at 3 institutions in 1 country.
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Abstract
Selection and mutation shape the genetic variation underlying human traits, but the specific evolutionary mechanisms driving complex trait variation are largely unknown. We developed a statistical method that uses polarized genome-wide association study (GWAS) summary statistics from a single population to detect signals of mutational bias and selection. We found evidence for nonneutral signals on variation underlying several traits (body mass index [BMI], schizophrenia, Crohn's disease, educational attainment, and height). We then used simulations that incorporate simultaneous negative and positive selection to show that these signals are consistent with mutational bias and shifts in the fitness-phenotype relationship, but not stabilizing selection or mutational bias alone. We additionally replicate two of our top three signals (BMI and educational attainment) in an external cohort, and show that population stratification may have confounded GWAS summary statistics for height in the GIANT cohort. Our results provide a flexible and powerful framework for evolutionary analysis of complex phenotypes in humans and other species, and offer insights into the evolutionary mechanisms driving variation in human polygenic traits.
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