Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (750 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
The number of mutations that occur in a specific sequence, GENE, or genome over a specified period of time such as years, cell divisions, or generations.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Mutation Rates; Rate, Mutation; Rates, Mutation; Mutation Frequency; Frequencies, Mutation; Frequency, Mutation; Mutation Frequencies.
Where it fits in the MeSH classification
- Broader topics
- Evolution, Molecular; Mutation
Related concepts
Research landscape
PubMed indexes 3,944 records tagged with the MeSH heading “Mutation Rate” (counts retrieved 2026-10-29). 1,090 of them (27.6%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 2,778 records.
Reviews account for 232 records (5.9%) and meta-analyses for 18. Randomized controlled trials number 10 (0.3%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 70 |
| 2000-2009 | 6 |
| 2010-2019 | 2,778 |
| 2020 onward | 1,090 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 232 | 5.9% |
| Meta-analyses | 18 | 0.5% |
| Randomized controlled trials | 10 | 0.3% |
Method: PubMed query "Mutation Rate"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in genetics and genomics
Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Somatic mutation rates scale with lifespan across mammals | 2022 | Research article Design not recorded in structured metadata | 435 | cc by PMID 35418684 · DOI · PMC9021023 |
| Differences between germline and somatic mutation rates in humans and mice | 2017 | Research article Design not recorded in structured metadata | 357 | cc by PMID 28485371 · DOI · PMC5436103 |
| No evidence for increased transmissibility from recurrent mutations in SARS-CoV-2 | 2020 | Research article Design not recorded in structured metadata | 255 | cc by PMID 33239633 · DOI · PMC7688939 |
| Human de novo mutation rates from a four-generation pedigree reference | 2025 | Research article Design not recorded in structured metadata | 117 | cc by PMID 40269156 · DOI · PMC12240836 |
Somatic mutation rates scale with lifespan across mammals [1]
Abstract reading summary — source excerpts
- Opening excerpt
- The rates and patterns of somatic mutation in normal tissues are largely unknown outside of humans1-7.
- Closing excerpt
- These data unveil common mutational processes across mammals, and suggest that somatic mutation rates are evolutionarily constrained and may be a contributing factor in ageing.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (206 words)
The rates and patterns of somatic mutation in normal tissues are largely unknown outside of humans1-7. Comparative analyses can shed light on the diversity of mutagenesis across species, and on long-standing hypotheses about the evolution of somatic mutation rates and their role in cancer and ageing. Here we performed whole-genome sequencing of 208 intestinal crypts from 56 individuals to study the landscape of somatic mutation across 16 mammalian species. We found that somatic mutagenesis was dominated by seemingly endogenous mutational processes in all species, including 5-methylcytosine deamination and oxidative damage. With some differences, mutational signatures in other species resembled those described in humans8, although the relative contribution of each signature varied across species. Notably, the somatic mutation rate per year varied greatly across species and exhibited a strong inverse relationship with species lifespan, with no other life-history trait studied showing a comparable association. Despite widely different life histories among the species we examined-including variation of around 30-fold in lifespan and around 40,000-fold in body mass-the somatic mutation burden at the end of lifespan varied only by a factor of around 3. These data unveil common mutational processes across mammals, and suggest that somatic mutation rates are evolutionarily constrained and may be a contributing factor in ageing.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 35418684 · DOI · PMC9021023
Differences between germline and somatic mutation rates in humans and mice [2]
Abstract reading summary — source excerpts
- Opening excerpt
- The germline mutation rate has been extensively studied and has been found to vary greatly between species, but much less is known about the somatic mutation rate in multicellular organisms, which remains very difficult to determine.
- Closing excerpt
- Our findings demonstrate both the privileged status of germline genome integrity and species-specific differences in genome maintenance.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (126 words)
The germline mutation rate has been extensively studied and has been found to vary greatly between species, but much less is known about the somatic mutation rate in multicellular organisms, which remains very difficult to determine. Here, we present data on somatic mutation rates in mice and humans, obtained by sequencing single cells and clones derived from primary fibroblasts, which allows us to make the first direct comparison with germline mutation rates in these two species. The results indicate that the somatic mutation rate is almost two orders of magnitude higher than the germline mutation rate and that both mutation rates are significantly higher in mice than in humans. Our findings demonstrate both the privileged status of germline genome integrity and species-specific differences in genome maintenance.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28485371 · DOI · PMC5436103
No evidence for increased transmissibility from recurrent mutations in SARS-CoV-2 [3]
Abstract reading summary — source excerpts
- Opening excerpt
- COVID-19 is caused by the coronavirus SARS-CoV-2, which jumped into the human population in late 2019 from a currently uncharacterised animal reservoir.
- Closing excerpt
- At this stage we find no evidence for significantly more transmissible lineages of SARS-CoV-2 due to recurrent mutations.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (199 words)
COVID-19 is caused by the coronavirus SARS-CoV-2, which jumped into the human population in late 2019 from a currently uncharacterised animal reservoir. Due to this recent association with humans, SARS-CoV-2 may not yet be fully adapted to its human host. This has led to speculations that SARS-CoV-2 may be evolving towards higher transmissibility. The most plausible mutations under putative natural selection are those which have emerged repeatedly and independently (homoplasies). Here, we formally test whether any homoplasies observed in SARS-CoV-2 to date are significantly associated with increased viral transmission. To do so, we develop a phylogenetic index to quantify the relative number of descendants in sister clades with and without a specific allele. We apply this index to a curated set of recurrent mutations identified within a dataset of 46,723 SARS-CoV-2 genomes isolated from patients worldwide. We do not identify a single recurrent mutation in this set convincingly associated with increased viral transmission. Instead, recurrent mutations currently in circulation appear to be evolutionary neutral and primarily induced by the human immune system via RNA editing, rather than being signatures of adaptation. At this stage we find no evidence for significantly more transmissible lineages of SARS-CoV-2 due to recurrent mutations.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 33239633 · DOI · PMC7688939
Human de novo mutation rates from a four-generation pedigree reference [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Understanding the human de novo mutation (DNM) rate requires complete sequence information1.
- Closing excerpt
- These near-telomere-to-telomere familial genomes provide a truth set to understand the most fundamental processes underlying human genetic variation.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (219 words)
Understanding the human de novo mutation (DNM) rate requires complete sequence information1. Here using five complementary short-read and long-read sequencing technologies, we phased and assembled more than 95% of each diploid human genome in a four-generation, twenty-eight-member family (CEPH 1463). We estimate 98-206 DNMs per transmission, including 74.5 de novo single-nucleotide variants, 7.4 non-tandem repeat indels, 65.3 de novo indels or structural variants originating from tandem repeats, and 4.4 centromeric DNMs. Among male individuals, we find 12.4 de novo Y chromosome events per generation. Short tandem repeats and variable-number tandem repeats are the most mutable, with 32 loci exhibiting recurrent mutation through the generations. We accurately assemble 288 centromeres and six Y chromosomes across the generations and demonstrate that the DNM rate varies by an order of magnitude depending on repeat content, length and sequence identity. We show a strong paternal bias (75-81%) for all forms of germline DNM, yet we estimate that 16% of de novo single-nucleotide variants are postzygotic in origin with no paternal bias, including early germline mosaic mutations. We place all this variation in the context of a high-resolution recombination map (~3.4 kb breakpoint resolution) and find no correlation between meiotic crossover and de novo structural variants. These near-telomere-to-telomere familial genomes provide a truth set to understand the most fundamental processes underlying human genetic variation.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40269156 · DOI · PMC12240836
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article The Frequency of Ras Mutations in Cancer [5]
- Research article Genetic drift, selection and the evolution of the mutation rate [6]
- Research article Variation in the mutation rate across mammalian genomes [7]
- Research article Revising the human mutation rate: implications for understanding human evolution [8]
- Research article Time-dependent rates of molecular evolution [9]
- Research article Complexities of Viral Mutation Rates [10]
References
- Cagan A, Baez-Ortega A, Brzozowska N, Abascal F, Coorens THH, Sanders MA, et al.. Somatic mutation rates scale with lifespan across mammals. . 2022. PMID 35418684 · DOI · PMC9021023
- Milholland B, Dong X, Zhang L, Hao X, Suh Y, Vijg J. Differences between germline and somatic mutation rates in humans and mice. . 2017. PMID 28485371 · DOI · PMC5436103
- van Dorp L, Richard D, Tan CCS, Shaw LP, Acman M, Balloux F. No evidence for increased transmissibility from recurrent mutations in SARS-CoV-2. . 2020. PMID 33239633 · DOI · PMC7688939
- Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, et al.. Human de novo mutation rates from a four-generation pedigree reference. . 2025. PMID 40269156 · DOI · PMC12240836
- Prior IA, Hood FE, Hartley JL. The Frequency of Ras Mutations in Cancer. Cancer Res. 2020. PMID 32209560 · DOI · PMC7367715
- Lynch M, Ackerman MS, Gout JF, Long H, Sung W, Thomas WK, et al.. Genetic drift, selection and the evolution of the mutation rate. Nat Rev Genet. 2016. PMID 27739533 · DOI
- Hodgkinson A, Eyre-Walker A. Variation in the mutation rate across mammalian genomes. Nat Rev Genet. 2011. PMID 21969038 · DOI
- Scally A, Durbin R. Revising the human mutation rate: implications for understanding human evolution. Nat Rev Genet. 2012. PMID 22965354 · DOI
- Ho SY, Lanfear R, Bromham L, Phillips MJ, Soubrier J, Rodrigo AG, et al.. Time-dependent rates of molecular evolution. Mol Ecol. 2011. PMID 21740474 · DOI
- Peck KM, Lauring AS. Complexities of Viral Mutation Rates. J Virol. 2018. PMID 29720522 · DOI · PMC6026756
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.
Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.