ReviewNature reviews. Genetics2009
Understanding what determines the frequency and pattern of human germline mutations.
Review in Nature reviews. Genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 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.
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Who cites it
74 citing papers in PubMed, 139 citations in OpenAlex.
- Trial
- Convergent Evolution in Tumor Genomes Targets Functional Domains.bioRxiv : the preprint server for biology · 2026Article
- Transgenerational epigenetic effect of kings' aging on offspring's caste fate mediated by sperm DNA methylation in termites.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Contribution of the seminal microbiome to paternal programming.Biology of reproduction · 2024Review
- Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice.eLife · 2024Article
- Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.Genome biology and evolution · 2024Article
- Exploring the Micro-Mosaic Landscape ofGenes · 2024Article
- Childhood obesity from the genes to the epigenome.Frontiers in endocrinology · 2024Review
- Identification ofRespiratory medicine case reports · 2024Article
- Epistasis between mutator alleles contributes to germline mutation spectra variability in laboratory mice.bioRxiv : the preprint server for biology · 2023Article
- Germline EGFR mutations in lung cancer (Review).Oncology letters · 2023Review
- Variation in mutation, recombination, and transposition rates inGenome research · 2023Article
- Measurement of FGFR3 signaling at the cell membrane via total internal reflection fluorescence microscopy to compare the activation of FGFR3 mutants.The Journal of biological chemistry · 2023Article
- Article
- Individual Genetic Heterogeneity.Genes · 2022Review
- Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.Nature genetics · 2022Article
- Article
- Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.Genome research · 2022Article
- Germline biomarkers predict toxicity to anti-PD1/PDL1 checkpoint therapy.Journal for immunotherapy of cancer · 2022Article
- Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.HGG advances · 2022Article
14 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
2 authors at 1 institution in 1 country.
Funding
Abstract
Surprising findings about human germline mutation have come from applying new technologies to detect rare mutations in germline DNA, from analysing DNA sequence divergence between humans and closely related species, and from investigating human polymorphic variation. In this Review we discuss how these approaches affect our current understanding of the roles of sex, age, mutation hot spots, germline selection and genomic factors in determining human nucleotide substitution mutation patterns and frequencies. To enhance our understanding of mutation and disease, more extensive molecular data on the human germ line with regard to mutation origin, DNA repair, epigenetic status and the effect of newly arisen mutations on gamete development are needed.
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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.