ArticleScientific reports2019
Targeted Single Primer Enrichment Sequencing with Single End Duplex-UMI.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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
17 citing papers in PubMed.
- Anchored random reverse primer sequencing for quantitative detection of novel gene fusions.Nature biomedical engineering · 2026Article
- The actionable transcriptome: a framework for incorporating RNA sequencing into precision oncology.Nature reviews. Clinical oncology · 2026Review
- A duplex sequencing approach for high-sensitivity detection of genome-edited plants.Food chemistry. Molecular sciences · 2025Article
- Monitoring of measurable residual disease by next-generation sequencing in patients with acute myeloid leukaemia.British journal of haematology · 2025Article
- From Panels to Pathogen Networks: The Expanding Role of Targeted Sequencing in Veterinary Medicine.Biology · 2025Review
- Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.Molecular diagnosis & therapy · 2025Article
- Digital sequencing is improved by using structured unique molecular identifiers.Genome biology · 2025Article
- Circulating tumor DNA laboratory processes and clinical applications in nasopharyngeal carcinoma.Frontiers in oncology · 2025Review
- SomaticCells · 2024Article
- From haystack to high precision: advanced sequencing methods to unraveling circulating tumor DNA mutations.Frontiers in molecular biosciences · 2024Review
- The changing face of circulating tumor DNA (ctDNA) profiling: Factors that shape the landscape of methodologies, technologies, and commercialization.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Preparation of Duplex Sequencing Libraries for Archival Paraffin-Embedded Tissue Samples Using Single-Strand-Specific Nuclease P1.International journal of molecular sciences · 2022Article
- Preanalytical Variables and Sample Quality Control for Clinical Variant Analysis.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Single-strand specific nuclease enhances accuracy of error-corrected sequencing and improves rare mutation-detection sensitivity.Archives of toxicology · 2022Article
- cfDNA Sequencing: Technological Approaches and Bioinformatic Issues.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Adaptor Template Oligo-Mediated Sequencing (ATOM-Seq) is a new ultra-sensitive UMI-based NGS library preparation technology for use with cfDNA and cfRNA.Scientific reports · 2021Article
- Intra-host changes in Kaposi sarcoma-associated herpesvirus genomes in Ugandan adults with Kaposi sarcoma.PLoS pathogens · 2021Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For specific detection of somatic variants at very low levels, artifacts from the NGS workflow have to be eliminated. Various approaches using unique molecular identifiers (UMI) to analytically remove NGS artifacts have been described. Among them, Duplex-seq was shown to be highly effective, by leveraging the sequence complementarity of two DNA strands. However, all of the published Duplex-seq implementations so far required pair-end sequencing and in the case of combining duplex sequencing with target enrichment, lengthy hybridization enrichment was required. We developed a simple protocol, which enabled the retrieval of duplex UMI in multiplex PCR based enrichment and sequencing. Using this protocol and reference materials, we demonstrated the accurate detection of known SNVs at 0.1-0.2% allele fractions, aided by duplex UMI. We also observed that low level base substitution artifacts could be introduced when preparing in vitro DNA reference materials, which could limit their utility as a benchmarking tool for variant detection at very low levels. Our new targeted sequencing method offers the benefit of using duplex UMI to remove NGS artifacts in a much more simplified workflow than existing targeted duplex sequencing methods.
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