ArticleNature communications2019
The use of technical replication for detection of low-level somatic mutations in next-generation sequencing.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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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
40 citing papers in PubMed.
- Paired mutation calling and spatial transcriptomics identify cellular neighborhoods associated with the neoplastic outcome of mouse colitis.Nature genetics · 2026Article
- Intrahost mutational dynamics parallel long-term genome evolution in endosymbionts.Molecular biology and evolution · 2026Article
- Multiomics analysis of the molecular and single-cell responses of rice after deep-space flight on Chang'e-5.Nature communications · 2026Article
- Somatic mosaicism in ALS and FTD identifies focal mutations associated with widespread degeneration.Nature genetics · 2026Article
- Advances in the Genetics and Molecular Biology of Brain Arteriovenous Malformations.Translational stroke research · 2026Review
- Clonal biases dictate availability of colonic cancer driver mutations for transformation.Nature communications · 2026Article
- Emerging role of low-frequency somatic mutations in cancer relapse: from early detection to precision oncology.Frontiers in oncology · 2026Review
- Single-cell multi-omics in cancer immunotherapy: from tumor heterogeneity to personalized precision treatment.Molecular cancer · 2025Review
- Mutations mark cell lineages and sectors in flowers of a woody angiosperm.PLoS genetics · 2025Article
- Design of mismatch closure for enhanced specificity in DNA strand displacement reactions.Nucleic acids research · 2025Article
- Origin and cell type specificity of mitochondrial DNA mutations inScience advances · 2025Article
- Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.Experimental & molecular medicine · 2024Article
- Recent advances in enzyme-free and enzyme-mediated single-nucleotide variation assayNational science review · 2024Review
- An approach for developing a blood-based screening panel for lung cancer based on clonal hematopoietic mutations.PloS one · 2024Article
- Improved detection of low-frequency within-host variants from deep sequencing: A case study with human papillomavirus.Virus evolution · 2024Article
- A critical spotlight on the paradigms of FFPE-DNA sequencing.Nucleic acids research · 2023Review
- High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.Neurology. Genetics · 2023Article
- Inferring parameters of cancer evolution in chronic lymphocytic leukemia.PLoS computational biology · 2022Article
- Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.PLoS genetics · 2022Article
- Lineage tracing in human tissues.The Journal of pathology · 2022Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Accurate genome-wide detection of somatic mutations with low variant allele frequency (VAF, <1%) has proven difficult, for which generalized, scalable methods are lacking. Herein, we describe a new computational method, called RePlow, that we developed to detect low-VAF somatic mutations based on simple, library-level replicates for next-generation sequencing on any platform. Through joint analysis of replicates, RePlow is able to remove prevailing background errors in next-generation sequencing analysis, facilitating remarkable improvement in the detection accuracy for low-VAF somatic mutations (up to ~99% reduction in false positives). The method is validated in independent cancer panel and brain tissue sequencing data. Our study suggests a new paradigm with which to exploit an overwhelming abundance of sequencing data for accurate variant detection.
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