ArticleGenome research2009
Darwinian and demographic forces affecting human protein coding genes.
Article in Genome research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers.
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Who cites it
91 citing papers in PubMed.
- Inference of population demographic history captures differing evolutionary signals based on the number of individuals in the dataset.bioRxiv : the preprint server for biology · 2026Article
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- Coalescent theory of the ψ directionality index.G3 (Bethesda, Md.) · 2025Article
- Inference and applications of ancestral recombination graphs.Nature reviews. Genetics · 2025Review
- Computational Genomics and Its Applications to Anthropological Questions.American journal of biological anthropology · 2024Review
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- Inferring the mode and strength of ongoing selection.Genome research · 2023Article
- Genomic analysis of a new heterotic maize group reveals key loci for pedigree breeding.Frontiers in plant science · 2023Article
- Demographic history and gene flow in the peatmossesEcology and evolution · 2022Article
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation.Science (New York, N.Y.) · 2021Article
- Population genetics: past, present, and future.Human genetics · 2021Review
- Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Inferring the Demographic History of Inbred Species from Genome-Wide SNP Frequency Data.Molecular biology and evolution · 2020Article
- Intraspecific diversification of the crop wild relative Brassica cretica Lam. using demographic model selection.BMC genomics · 2020Article
- Genetic Variation in Human Gene Regulatory Factors Uncovers Regulatory Roles in Local Adaptation and Disease.Genome biology and evolution · 2019Article
- Convergent evolution in Arabidopsis halleri and Arabidopsis arenosa on calamine metalliferous soils.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2019Article
- Article
- Signatures of Long-Term Balancing Selection in Human Genomes.Genome biology and evolution · 2018Article
- Combining allele frequency and tree-based approaches improves phylogeographic inference from natural history collections.Molecular ecology · 2018Article
31 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors.
Funding
Abstract
Past demographic changes can produce distortions in patterns of genetic variation that can mimic the appearance of natural selection unless the demographic effects are explicitly removed. Here we fit a detailed model of human demography that incorporates divergence, migration, admixture, and changes in population size to directly sequenced data from 13,400 protein coding genes from 20 European-American and 19 African-American individuals. Based on this demographic model, we use several new and established statistical methods for identifying genes with extreme patterns of polymorphism likely to be caused by Darwinian selection, providing the first genome-wide analysis of allele frequency distributions in humans based on directly sequenced data. The tests are based on observations of excesses of high frequency-derived alleles, excesses of low frequency-derived alleles, and excesses of differences in allele frequencies between populations. We detect numerous new genes with strong evidence of selection, including a number of genes related to psychiatric and other diseases. We also show that microRNA controlled genes evolve under extremely high constraints and are more likely to undergo negative selection than other genes. Furthermore, we show that genes involved in muscle development have been subject to positive selection during recent human history. In accordance with previous studies, we find evidence for negative selection against mutations in genes associated with Mendelian disease and positive selection acting on genes associated with several complex diseases.
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