ArticlePLoS genetics2017
Differences in the rare variant spectrum among human populations.
Article in PLoS genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed.
- The Effect of Age and Sex on the Rate of Germline Mutations in Barn Owls.Genome biology and evolution · 2026Article
- Interpreting GC content differences across populations at polymorphic sites.bioRxiv : the preprint server for biology · 2026Article
- A sibling study of variation in parental mutation rates.bioRxiv : the preprint server for biology · 2026Article
- Methylation-associated mutagenesis underlies variation in the mutation spectrum across eukaryotes.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
- Identifying Single-Origin Rare Variants in Population Genomic Data.Molecular biology and evolution · 2025Article
- Methylation-associated mutagenesis underlies variation in the mutation spectrum across eukaryotes.bioRxiv : the preprint server for biology · 2025Article
- The evolution and convergence of mutation spectra across mammals.Communications biology · 2025Article
- Precision medicine in colorectal cancer: genomics profiling and targeted treatment.Frontiers in pharmacology · 2025Review
- The frequency of known germline LGR4 missense variant in the ethnic groups of West Siberia.Molecular biology reports · 2024Article
- Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline mutations.Communications biology · 2024Article
- A modeling of complex trait phenotypic variance determinants.PNAS nexus · 2024Article
- No evidence that ACE2 or TMPRSS2 drive population disparity in COVID risks.BMC medicine · 2024Article
- Evolution of the Mutation Spectrum Across a Mammalian Phylogeny.Molecular biology and evolution · 2023Article
- The rate of de novo structural variation is increased in in vitro-produced offspring and preferentially affects the paternal genome.Genome research · 2023Article
- Multiple Sources of Uncertainty Confound Inference of Historical Human Generation Times.Molecular biology and evolution · 2023Article
- Regularized sequence-context mutational trees capture variation in mutation rates across the human genome.PLoS genetics · 2023Article
- "Evolution of the mutation spectrum across a mammalian phylogeny".bioRxiv : the preprint server for biology · 2023Article
- Evolution of the SARS-CoV-2 Mutational Spectrum.Molecular biology and evolution · 2023Article
- The Impact of Sample Size and Population History on Observed Mutational Spectra: A Case Study in Human and Chimpanzee Populations.Genome biology and evolution · 2023Article
1 more citing papers are in PubMed but not listed here.
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2 authors.
Funding
Abstract
Mutations occur at vastly different rates across the genome, and populations, leading to differences in the spectrum of segregating polymorphisms. Here, we investigate variation in the rare variant spectrum in a sample of human genomes representing all major world populations. We find at least two distinct signatures of variation. One, consistent with a previously reported signature is characterized by an increased rate of TCC>TTC mutations in people from Western Eurasia and South Asia, likely related to differences in the rate, or efficiency of repair, of damage due to deamination of methylated guanine. We describe the geographic extent of this signature and show that it is detectable in the genomes of ancient, but not archaic humans. The second signature is private to certain Native American populations, and is concentrated at CpG sites. We show that this signature is not driven by differences in the CpG mutation rate, but is a result of the fact that highly mutable CpG sites are more likely to undergo multiple independent mutations across human populations, and the spectrum of such mutations is highly sensitive to recent demography. Both of these effects dramatically affect the spectrum of rare variants across human populations, and should be taken into account when using mutational clocks to make inference about demography.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.