ArticleGenome biology2019
Analysis of error profiles in deep next-generation sequencing data.
Article in Genome biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 172 papers, 1 of them a synthesis that pooled it.
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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
172 citing papers in PubMed, 1 synthesis or guideline pooled it.
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- GapSense: Similarity Estimation-Based Gap Filler with TGS-Reads for Genome Assemblies.Interdisciplinary sciences, computational life sciences · 2026Article
- Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.EBioMedicine · 2026Article
- Molecular risk markers define risk of relapse in myeloid leukemia of Down syndrome beyond measurable residual disease.Blood advances · 2026Article
- DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data.NAR genomics and bioinformatics · 2026Article
- Analysis of error profiles of indels and structural variants in deep-sequencing data.Cell genomics · 2026Article
- Assessing Species Delimitation inMicroorganisms · 2026Article
- PCLIPtools: a robust framework for identifying RNA-protein interaction sites from PAR-CLIP experiments.Nucleic acids research · 2026Article
- Accurate detection of somatic single-nucleotide variants from bulk RNA-seq data using RNA-MosaicHunter.Nucleic acids research · 2026Article
- Reducing bias and enhancing equity in AI-enabled precision nutrition: addressing measurement error across wearables, multiomics, and dietary data.Frontiers in digital health · 2026Review
- Review
- Nanopore based RNA methylation profiling of a circulating lung cancer biomarker.Communications medicine · 2025Article
- The human mycobiome: a critical yet understudied component of health and disease.Microbiology (Reading, England) · 2025Review
- MOV&RSim: computational modelling of cancer-specific variants and sequencing reads characteristics for realistic tumoral sample simulation.BMC bioinformatics · 2025Article
- Efficient trace reconstruction in DNA storage systems using bidirectional beam search.iScience · 2025Article
- PCLIPtools: A Robust Framework for Identifying RNA-Protein Interaction Sites from PAR-CLIP experiments.bioRxiv : the preprint server for biology · 2025Article
- Review
- Review
112 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors.
Funding
Abstract
backgroundSequencing errors are key confounding factors for detecting low-frequency genetic variants that are important for cancer molecular diagnosis, treatment, and surveillance using deep next-generation sequencing (NGS). However, there is a lack of comprehensive understanding of errors introduced at various steps of a conventional NGS workflow, such as sample handling, library preparation, PCR enrichment, and sequencing. In this study, we use current NGS technology to systematically investigate these questions.
resultsBy evaluating read-specific error distributions, we discover that the substitution error rate can be computationally suppressed to 10
conclusionsWe present the first comprehensive analysis of sequencing error sources in conventional NGS workflows. The error profiles revealed by our study highlight new directions for further improving NGS analysis accuracy both experimentally and computationally, ultimately enhancing the precision of deep sequencing.
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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.