ArticleProceedings of the National Academy of Sciences of the United States of America2017
Bisulfite-converted duplexes for the strand-specific detection and quantification of rare mutations.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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
12 citing papers in PubMed.
- Methyltransferase-assisted single duplex sequencing for detecting circulating tumor DNA.EMBO molecular medicine · 2026Article
- Biochemical engineering of 5hmdC-DNA using a Tet3 double-mutant.Computational and structural biotechnology journal · 2026Article
- Challenges and proposed solutions to the adoption of cell free DNA in screening, detecting and prognosticating colorectal cancer.World journal of gastrointestinal oncology · 2025Review
- The Origin of Highly Elevated Cell-Free DNA in Healthy Individuals and Patients with Pancreatic, Colorectal, Lung, or Ovarian Cancer.Cancer discovery · 2023Article
- Circulating tumor DNA: current challenges for clinical utility.The Journal of clinical investigation · 2022Review
- A new approach to decode DNA methylome and genomic variants simultaneously from double strand bisulfite sequencing.Briefings in bioinformatics · 2021Article
- Tumor DNA as a Cancer Biomarker through the Lens of Colorectal Neoplasia.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Article
- Next-Generation Genotoxicology: Using Modern Sequencing Technologies to Assess Somatic Mutagenesis and Cancer Risk.Environmental and molecular mutagenesis · 2020Review
- The potential of cerebrospinal fluid-based liquid biopsy approaches in CNS tumors.Neuro-oncology · 2019Review
- Detecting Rare Mutations and DNA Damage with Sequencing-Based Methods.Trends in biotechnology · 2018Review
- Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations.Nature reviews. Genetics · 2018Review
- Aging and the rise of somatic cancer-associated mutations in normal tissues.PLoS genetics · 2018Review
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
The identification of mutations that are present at low frequencies in clinical samples is an essential component of precision medicine. The development of molecular barcoding for next-generation sequencing has greatly enhanced the sensitivity of detecting such mutations by massively parallel sequencing. However, further improvements in specificity would be useful for a variety of applications. We herein describe a technology (BiSeqS) that can increase the specificity of sequencing by at least two orders of magnitude over and above that achieved with molecular barcoding and can be applied to any massively parallel sequencing instrument. BiSeqS employs bisulfite treatment to distinguish the two strands of molecularly barcoded DNA; its specificity arises from the requirement for the same mutation to be identified in both strands. Because no library preparation is required, the technology permits very efficient use of the template DNA as well as sequence reads, which are nearly all confined to the amplicons of interest. Such efficiency is critical for clinical samples, such as plasma, in which only tiny amounts of DNA are often available. We show here that BiSeqS can be applied to evaluate transversions, as well as small insertions or deletions, and can reliably detect one mutation among >10,000 wild-type molecules.
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Registered trials
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