ReviewDNA repair2021
Significance and limitations of the use of next-generation sequencing technologies for detecting mutational signatures.
Review in DNA repair, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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
36 citing papers in PubMed.
- Whole Tumor Heterogeneity Topography (WTHT)-A New Approach for Assessment of Intratumor Mutational Heterogeneity in Colorectal Adenomas.International journal of molecular sciences · 2026Article
- Next-Generation Sequencing in Pulmonary Fibrosis: Translational Promise and Current Clinical Limitations.Current issues in molecular biology · 2026Review
- Implementing whole genome and transcriptome sequencing for cancer patients in routine healthcare: a comprehensive guide to costing.British journal of cancer · 2026Article
- Biological basis and clinical translation prospects of circulating cell-free DNA in precision management of breast cancer (Review).Oncology letters · 2026Review
- Application of next-generation sequencing in the treatment of myelodysplastic syndrome: from mechanisms to clinical practice.Blood science (Baltimore, Md.) · 2026Review
- Technical feasibility of a long read, fourth generation sequencing platform in diagnostic profiling of clinical routine samples: a proof-of-concept study.Pathologica · 2026Article
- Integrating liquid biopsy and mutational signatures to advance precision oncology.NPJ precision oncology · 2026Review
- Tutorial for variant interrogation in tumor samples.PLoS computational biology · 2026Article
- Whole-genome landscapes of 1,364 breast cancers.Nature · 2026Article
- Spectrum of actionable genetic variants in acute myeloid leukaemia patients from Pakistan: a study based on next-generation sequencing.Ecancermedicalscience · 2026Article
- Identifying the Degree of Gene Reuse During Repeated Adaptation.Molecular ecology · 2025Review
- Evaluation of false positive and false negative errors in targeted next generation sequencing.Genome biology · 2025Article
- Article
- Artificial Intelligence in the Diagnosis of Pediatric Rare Diseases: From Real-World Data Toward a Personalized Medicine Approach.Journal of personalized medicine · 2025Review
- HRProfiler Detects Homologous Recombination Deficiency in Breast and Ovarian Cancers Using Whole-Genome and Whole-Exome Sequencing Data.Cancer research · 2025Article
- Article
- Nitrosamine Drug Substance-Related Impurities (NDSRIs) in Pharmaceuticals: Formation, Mitigation Strategies, and Emphasis on Mutagenicity Risks.Pharmaceutical research · 2025Review
- ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband.Reproductive biology and endocrinology : RB&E · 2025Article
- A Cross-Sectional Study of Variant Interpretation and Reporting of NGS Data Using Tertiary Analysis Software: NavifyOncology and therapy · 2025Article
- Review
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.
Funding
Abstract
Next generation sequencing technologies (NGS) have been critical in characterizing the genomic landscape and untangling the genetic heterogeneity of human cancer. Since its advent, NGS has played a pivotal role in identifying the patterns of somatic mutations imprinted on cancer genomes and in deciphering the signatures of the mutational processes that have generated these patterns. Mutational signatures serve as phenotypic molecular footprints of exposures to environmental factors as well as deficiency and infidelity of DNA replication and repair pathways. Since the first roadmap of mutational signatures in human cancer was generated from whole-genome and whole-exome sequencing data, there has been a growing interest to extract mutational signatures from other NGS technologies such as targeted panel sequencing, RNA sequencing, single-cell sequencing, duplex sequencing, reduced representation sequencing, and long-read sequencing. Many of these technologies have their inherent sequencing biases and produce technical artifacts that can confound the extraction of reliable and interpretable mutational signatures. In this review, we highlight the relevance, limitations, and prospects of using different NGS technologies for examining mutational patterns and for deciphering mutational signatures.
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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.