ArticleNature genetics2014
The deleterious mutation load is insensitive to recent population history.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 178 papers.
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Who cites it
178 citing papers in PubMed.
- Whole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation.Scientific reports · 2021Trial
- Dynamics of mutators of arbitrary dominance in humans.bioRxiv : the preprint server for biology · 2026Article
- What has population genomics told us about the dynamics of selection and plant adaptation?Molecular biology and evolution · 2026Review
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- Census and genetic analysis of the United States marmoset population.bioRxiv : the preprint server for biology · 2026Article
- Historically Small Population Size Limits Purging of Deleterious Mutations in a Conservation-Reliant Species, the Kirtland's Warbler.bioRxiv : the preprint server for biology · 2026Article
- Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.Genes & diseases · 2026Review
- Ancestry-specific performance of variant effect predictors in clinical variant classification.bioRxiv : the preprint server for biology · 2026Article
- Genetic legacy and recent cross of two ancient lineages underlie the rebound of the world's rarest primate.Science advances · 2026Article
- Mutation-selection-drift balance models of complex diseases.Genetics · 2025Article
- Accessible, Realistic Genome Simulation with Selection Using stdpopsim.Molecular biology and evolution · 2025Article
- Accessible, realistic genome simulation with selection using stdpopsim.bioRxiv : the preprint server for biology · 2025Article
- Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.Nature communications · 2025Article
- Mutational load and adaptive variation are shaped by climate and species range dynamics in Vitis arizonica.The New phytologist · 2025Article
- Study design and the sampling of deleterious rare variants in biobank-scale datasets.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The distribution of highly deleterious variants across human ancestry groups.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Mutation-selection-drift balance models of complex diseases.bioRxiv : the preprint server for biology · 2025Article
- The landscape of fitness effects of putatively functional noncoding mutations in humans.bioRxiv : the preprint server for biology · 2025Article
- Human deleterious mutation rate slows adaptation and implies high fitness variance.bioRxiv : the preprint server for biology · 2025Article
- The role of complement factor I rare genetic variants in age related macular degeneration in Finland.Human molecular genetics · 2025Article
118 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
Abstract
Human populations have undergone major changes in population size in the past 100,000 years, including recent rapid growth. How these demographic events have affected the burden of deleterious mutations in individuals and the frequencies of disease mutations in populations remains unclear. We use population genetic models to show that recent human demography has probably had little impact on the average burden of deleterious mutations. This prediction is supported by two exome sequence data sets showing that individuals of west African and European ancestry carry very similar burdens of damaging mutations. We further show that for many diseases, rare alleles are unlikely to contribute a large fraction of the heritable variation, and therefore the impact of recent growth is likely to be modest. However, for those diseases that have a direct impact on fitness, strongly deleterious rare mutations probably do have an important role, and recent growth will have increased their impact.
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