ArticleG3 (Bethesda, Md.)2014
How much of the variation in the mutation rate along the human genome can be explained?
Article in G3 (Bethesda, Md.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Estimating the proportion of beneficial mutations that are not adaptive in mammals.PLoS genetics · 2024Article
- PhyloAcc-GT: A Bayesian Method for Inferring Patterns of Substitution Rate Shifts on Targeted Lineages Accounting for Gene Tree Discordance.Molecular biology and evolution · 2023Article
- Inferring Long-Term Effective Population Size with Mutation-Selection Models.Molecular biology and evolution · 2021Article
- Passenger hotspot mutations in cancer driven by APOBEC3A and mesoscale genomic features.Science (New York, N.Y.) · 2019Article
- Large scale variation in the rate of germ-line de novo mutation, base composition, divergence and diversity in humans.PLoS genetics · 2018Article
- Mutation Rate Variation is a Primary Determinant of the Distribution of Allele Frequencies in Humans.PLoS genetics · 2016Article
- An expanded sequence context model broadly explains variability in polymorphism levels across the human genome.Nature genetics · 2016Article
- Article
- Extensive de novo mutation rate variation between individuals and across the genome of Chlamydomonas reinhardtii.Genome research · 2015Article
- Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells.PLoS genetics · 2014Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It has been claimed recently that it may be possible to predict the rate of de novo mutation of each site in the human genome with a high degree of accuracy [Michaelson et al. (2012), Cell 151: 1431-1442]. We show that this claim is unwarranted. By considering the correlation between the rate of de novo mutation and the predictions from the model of Michaelson et al., we show there could be substantial unexplained variance in the mutation rate. We investigate whether the model of Michaelson et al. captures variation at the single nucleotide level that is not due to simple context. We show that the model captures a substantial fraction of this variation at CpG dinucleotides but fails to explain much of the variation at non-CpG sites.
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