ArticlePloS one2016
Benefits and Challenges with Applying Unique Molecular Identifiers in Next Generation Sequencing to Detect Low Frequency Mutations.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 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
57 citing papers in PubMed.
- Exome sequencing shows same pattern of clonal tumor mutational burden, intratumor heterogenicity and clonal neoantigen between autologous tumor and Vigil product.Scientific reports · 2025Trial
- Next Generation-Targeted Amplicon Sequencing (NG-TAS): an optimised protocol and computational pipeline for cost-effective profiling of circulating tumour DNA.Genome medicine · 2019Trial
- Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.EBioMedicine · 2026Article
- Article
- Diversity-generating retroelements for programmable targeted hypermutagenesis.Nature biotechnology · 2026Article
- Integrating liquid biopsy and mutational signatures to advance precision oncology.NPJ precision oncology · 2026Review
- Evaluation of false positive and false negative errors in targeted next generation sequencing.Genome biology · 2025Article
- Subclonal TP53 and KRAS variants combined with poor treatment response identify ultrahigh-risk pediatric patients with T-ALL.Blood advances · 2025Article
- Beyond traditional biopsies: the emerging role of ctDNA and MRD on breast cancer diagnosis and treatment.Discover oncology · 2025Review
- The Method of Minimal Residual Disease Detection With Circulating Tumor DNA and Its Clinical Applications in Colorectal Cancer.Cancer reports (Hoboken, N.J.) · 2025Review
- Constitutional mosaicism of pathogenic variants in SMARCB1 in a subset of patients with sporadic rhabdoid tumors.Neuro-oncology · 2025Article
- Next-generation sequencing: A powerful multi-purpose tool in cell line development for biologics production.Computational and structural biotechnology journal · 2025Review
- From DNA to Big Data: NGS Technologies and Their Applications.Methods in molecular biology (Clifton, N.J.) · 2025Review
- spotPCR: A Rapid and Efficient Approach for Indexing Individual Template Molecules using Unique Molecular Identifiers.bioRxiv : the preprint server for biology · 2024Article
- Evaluating Bioinformatics Processing of Somatic Variant Detection in cfDNA Using Targeted Sequencing with UMIs.International journal of molecular sciences · 2024Article
- Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery.NAR genomics and bioinformatics · 2024Article
- Current status of molecular diagnostic approaches using liquid biopsy.Journal of gastroenterology · 2023Review
- DNA ultra-sensitive quantification, a technology for studying HIV unintegrated linear DNA.Cell reports methods · 2023Article
- SUMA: a lightweight machine learning model-powered shared nearest neighbour-based clustering application interface for scRNA-Seq data.Turkish journal of biology = Turk biyoloji dergisi · 2023Article
- Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Indexing individual template molecules with a unique identifier (UID) before PCR and deep sequencing is promising for detecting low frequency mutations, as true mutations could be distinguished from PCR errors or sequencing errors based on consensus among reads sharing same index. In an effort to develop a robust assay to detect from urine low-abundant bladder cancer cells carrying well-documented mutations, we have tested the idea first on a set of mock templates, with wild type and known mutants mixed at defined ratios. We have measured the combined error rate for PCR and Illumina sequencing at each nucleotide position of three exons, and demonstrated the power of a UID in distinguishing and correcting errors. In addition, we have demonstrated that PCR sampling bias, rather than PCR errors, challenges the UID-deep sequencing method in faithfully detecting low frequency mutation.
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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.