ArticleGenetics2003
Estimating mutation rate: how to count mutations?
Article in Genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed.
- Enlarging viral mutation estimation: a view from the distribution of mutation rates.Microbiology (Reading, England) · 2026Article
- Genetic mutations associated with neonatal diabetes mellitus in Omani patients.Journal of pediatric endocrinology & metabolism : JPEM · 2018Article
- A perspective on the evolution of germ-cell development and germinal mosaics of deleterious mutations.Genetica · 2015Review
- Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.American journal of human genetics · 2014Article
- Pattern of mutation rates in the germline of Drosophila melanogaster males from a large-scale mutation screening experiment.G3 (Bethesda, Md.) · 2014Article
- Article
- Highly variable recessive lethal or nearly lethal mutation rates during germ-line development of male Drosophila melanogaster.Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Tests of selection in pooled case-control data: an empirical study.Frontiers in genetics · 2011Article
- Measurements of spontaneous rates of mutations in the recent past and the near future.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Mutation rate is an essential parameter in genetic research. Counting the number of mutant individuals provides information for a direct estimate of mutation rate. However, mutant individuals in the same family can share the same mutations due to premeiotic mutation events, so that the number of mutant individuals can be significantly larger than the number of mutation events observed. Since mutation rate is more closely related to the number of mutation events, whether one should count only independent mutation events or the number of mutants remains controversial. We show in this article that counting mutant individuals is a correct approach for estimating mutation rate, while counting only mutation events will result in underestimation. We also derived the variance of the mutation-rate estimate, which allows us to examine a number of important issues about the design of such experiments. The general strategy of such an experiment should be to sample as many families as possible and not to sample much more offspring per family than the reciprocal of the pairwise correlation coefficient within each family. To obtain a reasonably accurate estimate of mutation rate, the number of sampled families needs to be in the same or higher order of magnitude as the reciprocal of the mutation rate.
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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.