ArticleScience advances2022
Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing.
Article in Science advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 53 citations in OpenAlex.
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- Reconstruction of Cell Diversity and Cell Lineages from Somatic Mutations in Single-Cell Transcriptomic Data.DNA research : an international journal for rapid publication of reports on genes and genomes · 2026Article
- Somatic mutations and genome mosaicism in aging and disease.Experimental & molecular medicine · 2026Review
- High-fidelity rare structural variant detection with HiFiRE3 reduced representation via restriction enzyme ends.bioRxiv : the preprint server for biology · 2026Article
- High cancer-associated mutational burden in normal blood of xeroderma pigmentosum group C, but not groups A, D, or F.Blood neoplasia · 2026Article
- Benchmark Response Values for Error-Corrected Sequencing Mutagenicity Assessment Technologies.Environmental and molecular mutagenesis · 2026Article
- SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissues.Nucleic acids research · 2026Article
- Application of error-corrected sequencing technologies for in vivo regulatory mutagenicity assessment.Regulatory toxicology and pharmacology : RTP · 2026Review
- Mutagen-induced somatic mutation rate in primary mammalian cells in relation to maximum life span.Geromedicine · 2026Article
- Article
- The human mycobiome: a critical yet understudied component of health and disease.Microbiology (Reading, England) · 2025Review
- Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT).Environmental and molecular mutagenesis · 2025Review
- Somatic mutation and selection at population scale.Nature · 2025Article
- Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.Nature reviews. Genetics · 2025Review
- Article
- Modelling the ageing dependence of cancer evolutionary trajectories.Nature reviews. Cancer · 2025Review
- Strand Displacement Chain Reaction (SDCR): New Hybrid Amplification Technique for Fast and Sensitive Detection of Genetic Materials.Biomolecules · 2025Article
- Transferability, Reproducibility and Sensitivity of Mutation Quantification by Duplex Sequencing.Environmental and molecular mutagenesis · 2025Article
- DNA Circle-sequencing lowers the single molecule sequencing error threshold and identifies ultrasonication as a source of DNA damage.bioRxiv : the preprint server for biology · 2025Article
- Uniquely high spontaneous mutational load in blood cells of XP-C patients.bioRxiv : the preprint server for biology · 2025Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 3 countries.
Funding
Abstract
Postzygotic somatic mutations have been found associated with human disease, including diseases other than cancer. Most information on somatic mutations has come from studying clonally amplified mutant cells, based on a growth advantage or genetic drift. However, almost all somatic mutations are unique for each cell, and the quantitative analysis of these low-abundance mutations in normal tissues remains a major challenge in biology. Here, we introduce single-molecule mutation sequencing (SMM-seq), a novel approach for quantitative identification of point mutations in normal cells and tissues.
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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.