ArticleScience (New York, N.Y.)2012
Recent explosive human population growth has resulted in an excess of rare genetic variants.
Article in Science (New York, N.Y.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 305 papers, 1 of them a synthesis that pooled it.
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Who cites it
305 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Exome Sequencing of Familial Bipolar Disorder.JAMA psychiatry · 2016Pooled it
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- Assembling unmapped reads reveals hidden variation in South Asian genomes.Nature communications · 2026Article
- 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
- Genomic insights into recurrent demographic collapses and recovery dynamics in Tibetan antelopes (Pantholops hodgsoni).Science China. Life sciences · 2026Article
- Disordered but Different: Functional and Evolutionary Divergence of Transcription Factor Intrinsically Disordered Regions.bioRxiv : the preprint server for biology · 2026Article
- Health outcomes after national acute sleep deprivation events among the American public.JCI insight · 2026Article
- Discovery of a MarineMarine drugs · 2026Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- Estimation of demography and mutation rates from one million haploid genomes.American journal of human genetics · 2025Article
- Effective Population Size Estimation in Large Marine Populations: Considering Current Challenges and Opportunities When Simulating Large Data Sets With High-Density Genomic Information.Evolutionary applications · 2025Review
- Landscape of rare-allele variants in cultivated and wild soybean genomes.The plant genome · 2025Article
- Can AI reveal the next generation of high-impact bone genomics targets?Bone reports · 2025Review
- German longevity study reveals novel rare pro-longevity alleles clustering in mTOR signaling pathway.GeroScience · 2025Article
- Population History Across Timescales in an Urban Archipelago.Genome biology and evolution · 2025Article
- A likelihood-based framework for demographic inference from genealogical trees.Nature genetics · 2025Article
- The population genetics of convergent adaptation in maize and teosinte is not locally restricted.eLife · 2025Article
- Local Adaptation Is Highest in Populations With Stable Long-Term Growth.Ecology letters · 2025Article
245 more citing papers are in PubMed but not listed here.
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2 authors.
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Abstract
Human populations have experienced recent explosive growth, expanding by at least three orders of magnitude over the past 400 generations. This departure from equilibrium skews patterns of genetic variation and distorts basic principles of population genetics. We characterized the empirical signatures of explosive growth on the site frequency spectrum and found that the discrepancy in rare variant abundance across demographic modeling studies is mostly due to differences in sample size. Rapid recent growth increases the load of rare variants and is likely to play a role in the individual genetic burden of complex disease risk. Hence, the extreme recent human population growth needs to be taken into consideration in studying the genetics of complex diseases and traits.
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