ArticlePLoS biology2009
Cryptic variation in the human mutation rate.
Article in PLoS biology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 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.
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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
64 citing papers in PubMed, 136 citations in OpenAlex.
- Causal inference clarifies the roles of background selection and mutation rate variation in shaping human genetic diversity.bioRxiv : the preprint server for biology · 2026Article
- Characterization and distribution of de novo mutations in the zebra finch.Communications biology · 2024Article
- Article
- A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.Nature genetics · 2023Article
- Sequence dependencies and mutation rates of localized mutational processes in cancer.Genome medicine · 2023Article
- Article
- On the prospect of achieving accurate joint estimation of selection with population history.Genome biology and evolution · 2022Article
- A new test suggests hundreds of amino acid polymorphisms in humans are subject to balancing selection.PLoS biology · 2022Article
- De novo mutation rates at the single-mutation resolution in a humanGenome research · 2022Article
- The origin of human mutation in light of genomic data.Nature reviews. Genetics · 2021Review
- Neurodevelopmental phenotypes in individuals with pathogenic variants inCold Spring Harbor molecular case studies · 2021Article
- Patterns of DNA variation between the autosomes, the X chromosome and the Y chromosome in Bos taurus genome.Scientific reports · 2020Article
- Quantifying Influences on Intragenomic Mutation Rate.G3 (Bethesda, Md.) · 2020Article
- A-to-I RNA editing contributes to the persistence of predicted damaging mutations in populations.Genome research · 2019Article
- Passenger hotspot mutations in cancer driven by APOBEC3A and mesoscale genomic features.Science (New York, N.Y.) · 2019Article
- Overlooked roles of DNA damage and maternal age in generating human germline mutations.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- An Evolutionary Landscape of A-to-I RNA Editome across Metazoan Species.Genome biology and evolution · 2018Article
- APOBEC3A/B-induced mutagenesis is responsible for 20% of heritable mutations in the TpCpW context.Genome research · 2017Article
- Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.PLoS genetics · 2016Article
- Purifying selection shapes the coincident SNP distribution of primate coding sequences.Scientific reports · 2016Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The mutation rate is known to vary between adjacent sites within the human genome as a consequence of context, the most well-studied example being the influence of CpG dinucelotides. We investigated whether there is additional variation by testing whether there is an excess of sites at which both humans and chimpanzees have a single-nucleotide polymorphism (SNP). We found a highly significant excess of such sites, and we demonstrated that this excess is not due to neighbouring nucleotide effects, ancestral polymorphism, or natural selection. We therefore infer that there is cryptic variation in the mutation rate. However, although this variation in the mutation rate is not associated with the adjacent nucleotides, we show that there are highly nonrandom patterns of nucleotides that extend approximately 80 base pairs on either side of sites with coincident SNPs, suggesting that there are extensive and complex context effects. Finally, we estimate the level of variation needed to produce the excess of coincident SNPs and show that there is a similar, or higher, level of variation in the mutation rate associated with this cryptic process than there is associated with adjacent nucleotides, including the CpG effect. We conclude that there is substantial variation in the mutation that has, until now, been hidden from view.
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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.