ArticleeLife2021
Mutation saturation for fitness effects at human CpG sites.
Article in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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Who cites it
30 citing papers in PubMed, 36 citations in OpenAlex.
- Dynamics of mutators of arbitrary dominance in humans.bioRxiv : the preprint server for biology · 2026Article
- Article
- Inference of elevated mutation rates and variant effects using 700k exomes.bioRxiv : the preprint server for biology · 2026Article
- Sequence context and methylation interact to shape germline mutation rate variation at CpG sites.PLoS genetics · 2026Article
- Sequence context and methylation interact to shape germline mutation rate variation at CpG sites.bioRxiv : the preprint server for biology · 2026Article
- GDIv2: improving variant selection from human exomes.Bioinformatics advances · 2026Article
- Sex differences in transcription-associated mutagenesis in the human germline.bioRxiv : the preprint server for biology · 2025Article
- Estimation of demography and mutation rates from one million haploid genomes.American journal of human genetics · 2025Article
- The distribution of highly deleterious variants across human ancestry groups.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Expanding the Russian allele frequency reference via cross-laboratory data integration: insights from 7452 exome samples.National science review · 2024Article
- Constraining models of dominance for nonsynonymous mutations in the human genome.PLoS genetics · 2024Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.Nature genetics · 2024Article
- Bayesian estimation of gene constraint from an evolutionary model with gene features.bioRxiv : the preprint server for biology · 2024Article
- Shared evolutionary processes shape landscapes of genomic variation in the great apes.Genetics · 2024Article
- A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription.Nature genetics · 2023Article
- Meiotic DNA breaks drive multifaceted mutagenesis in the human germ line.Science (New York, N.Y.) · 2023Article
- Using Computational Simulations to Model Deleterious Variation and Genetic Load in Natural Populations.The American naturalist · 2023Review
- Article
- Shared evolutionary processes shape landscapes of genomic variation in the great apes.bioRxiv : the preprint server for biology · 2023Article
- Regularized sequence-context mutational trees capture variation in mutation rates across the human genome.PLoS genetics · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Whole exome sequences have now been collected for millions of humans, with the related goals of identifying pathogenic mutations in patients and establishing reference repositories of data from unaffected individuals. As a result, we are approaching an important limit, in which datasets are large enough that, in the absence of natural selection, every highly mutable site will have experienced at least one mutation in the genealogical history of the sample. Here, we focus on CpG sites that are methylated in the germline and experience mutations to T at an elevated rate of ~10
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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.