ReviewTrends in genetics : TIG2021
Hotspots of Human Mutation.
Review in Trends in genetics : TIG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
71 citing papers in PubMed, 2 syntheses or guidelines pooled it, 123 citations in OpenAlex.
- Clinical characteristics of BRAT1-related disease: a systematic literature review.Acta neurologica Belgica · 2024Pooled it
- Meta-Analysis of Mutations inGenes · 2021Pooled it
- Genetically engineered hypoimmunogenic iPSCs: Strategies and considerations for clinical applications.Regenerative therapy · 2026Review
- Beyond two alleles: multiallelic genotypic selection and its estimation from time-series data.BMC genomics · 2026Article
- Clinical translation of senescence-related pan-cancer multi-omics: tools for assessment and immunotherapy prediction.Cancer gene therapy · 2026Article
- Clinical and molecular characterization of giant axonal neuropathy due to a homozygous c.851 + 1G>A variant inGlobal medical genetics · 2026Article
- Genes shielded, repeats exposed: mutation bias in the midge Chironomus riparius.G3 (Bethesda, Md.) · 2026Article
- Genomic sequence and structural variations accumulating between laboratory lineages of wild typebioRxiv : the preprint server for biology · 2026Article
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.Human genome variation · 2026Article
- Article
- NanoVar: a comprehensive workflow for structural variant detection to uncover the genome's hidden patterns.Nature protocols · 2026Review
- Article
- A transposase-derived gene required for human brain development.Science advances · 2026Article
- Application of SNV Detection Methods for Market Control of Food Products from New Genomic Techniques.International journal of molecular sciences · 2026Review
- Nucleotide Substitution Biases in Related Cancer Driver Genes.International journal of molecular sciences · 2025Article
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.American journal of human genetics · 2025Article
- Article
- Recurrent somatic mutation and progerin expression in early vascular aging of chronic kidney disease.Nature aging · 2025Article
- The long and short of hyperdivergent regions.Trends in genetics : TIG · 2025Review
11 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
3 authors at 2 institutions in 1 country.
Funding
Abstract
Mutation of the human genome results in three classes of genomic variation: single nucleotide variants; short insertions or deletions; and large structural variants (SVs). Some mutations occur during normal processes, such as meiotic recombination or B cell development, and others result from DNA replication or aberrant repair of breaks in sequence-specific contexts. Regardless of mechanism, mutations are subject to selection, and some hotspots can manifest in disease. Here, we discuss genomic regions prone to mutation, mechanisms contributing to mutation susceptibility, and the processes leading to their accumulation in normal and somatic genomes. With further, more accurate human genome sequencing, additional mutation hotspots, mechanistic details of their formation, and the relevance of hotspots to evolution and disease are likely to be discovered.
Indexed as
Identifiers
What Socratic holds
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 Socratic graph.