ArticleeLife2023
Limited role of generation time changes in driving the evolution of the mutation spectrum in humans.
Article in eLife, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 24 citations in OpenAlex.
- Sequence effects on mutation rates investigated in whole-genome sequenced UK Biobank participants.G3 (Bethesda, Md.) · 2026Article
- What sets the mutation rate of a cell type in an animal species?PLoS biology · 2026Article
- Interpreting GC content differences across populations at polymorphic sites.bioRxiv : the preprint server for biology · 2026Article
- What sets the mutation rate of a cell type in an animal species?bioRxiv : the preprint server for biology · 2025Article
- A general framework for branch length estimation in Ancestral Recombination Graphs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A General Framework for Branch Length Estimation in Ancestral Recombination Graphs.bioRxiv : the preprint server for biology · 2025Article
- Not by Selection Alone: Expanding the Scope of Gene-Culture Coevolution.Evolutionary anthropology · 2025Review
- Deciphering the Foundations of Mitochondrial Mutational Spectra: Replication-Driven and Damage-Induced Signatures Across Chordate Classes.Molecular biology and evolution · 2025Article
- Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN.Communications biology · 2025Article
- Inference and applications of ancestral recombination graphs.Nature reviews. Genetics · 2025Review
- Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline mutations.Communications biology · 2024Article
- Reconstructing generation intervals over time.Nature reviews. Genetics · 2024Article
- The Evolutionary Interplay of Somatic and Germline Mutation Rates.Annual review of biomedical data science · 2024Review
- The divergence of mutation rates and spectra across the Tree of Life.EMBO reports · 2023Review
- Evolution of the Mutation Spectrum Across a Mammalian Phylogeny.Molecular biology and evolution · 2023Article
- Methods for Assessing Population Relationships and History Using Genomic Data.Annual review of genomics and human genetics · 2023Review
- 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
- Limited role of generation time changes in driving the evolution of the mutation spectrum in humans.eLife · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Recent studies have suggested that the human germline mutation rate and spectrum evolve rapidly. Variation in generation time has been linked to these changes, though its contribution remains unclear. We develop a framework to characterize temporal changes in polymorphisms within and between populations, while controlling for the effects of natural selection and biased gene conversion. Application to the 1000 Genomes Project dataset reveals multiple independent changes that arose after the split of continental groups, including a previously reported, transient elevation in TCC>TTC mutations in Europeans and novel signals of divergence in C>Gand T>A mutation rates among population samples. We also find a significant difference between groups sampled in and outside of Africa in old T>C polymorphisms that predate the out-of-Africa migration. This surprising signal is driven by TpG>CpG mutations and stems in part from mis-polarized CpG transitions, which are more likely to undergo recurrent mutations. Finally, by relating the mutation spectrum of polymorphisms to parental age effects on de novo mutations, we show that plausible changes in the generation time cannot explain the patterns observed for different mutation types jointly. Thus, other factors - genetic modifiers or environmental exposures - must have had a non-negligible impact on the human mutation landscape.
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What OpenQuestion holds
Registered trials
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.