ArticleCell reports methods2021
Advancing NGS quality control to enable measurement of actionable mutations in circulating tumor DNA.
Article in Cell reports methods, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed.
- Harmonising ctDNA Measurement in Haematological Malignancies: Traceability, Commutability and Reporting.Diagnostics (Basel, Switzerland) · 2026Review
- A novel one-step multiplex PCR method (OS-MPCR) for efficient NGS library preparation in cancer.PloS one · 2026Article
- DVOUG enables robust DNA sequence assembly and reconstruction with a dynamic, variable-order graph.Cell reports methods · 2025Article
- Evaluation of false positive and false negative errors in targeted next generation sequencing.Genome biology · 2025Article
- Next-generation sequencing as a valuable tool for mutational spectrum in advanced-stage NSCLC patients.Medicine and pharmacy reports · 2024Article
- TP53 mutation prevalence in normal airway epithelium as a biomarker for lung cancer risk.BMC cancer · 2023Article
- Clinical Circulating Tumor DNA Testing for Precision Oncology.Cancer research and treatment · 2023Article
- Review
- Ultra-deep multi-oncopanel sequencing of benchmarking samples with a wide range of variant allele frequencies.Scientific data · 2022Article
- Ultra-deep sequencing data from a liquid biopsy proficiency study demonstrating analytic validity.Scientific data · 2022Article
- Towards accurate and reliable resolution of structural variants for clinical diagnosis.Genome biology · 2022Review
- FDA-led consortium studies advance quality control of targeted next generation sequencing assays for precision oncology.Precision cancer medicine · 2021Article
- The Sequencing Quality Control 2 study: establishing community standards for sequencing in precision medicine.Genome biology · 2021Article
- Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions.Genome biology · 2021Article
Corrections and comments
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Authors and funding
20 authors.
Funding
Abstract
The primary objective of the FDA-led Sequencing and Quality Control Phase 2 (SEQC2) project is to develop standard analysis protocols and quality control metrics for use in DNA testing to enhance scientific research and precision medicine. This study reports a targeted next-generation sequencing (NGS) method that will enable more accurate detection of actionable mutations in circulating tumor DNA (ctDNA) clinical specimens. To accomplish this, a synthetic internal standard spike-in was designed for each actionable mutation target, suitable for use in NGS following hybrid capture enrichment and unique molecular index (UMI) or non-UMI library preparation. When mixed with contrived ctDNA reference samples, internal standards enabled calculation of technical error rate, limit of blank, and limit of detection for each variant at each nucleotide position in each sample. True-positive mutations with variant allele fraction too low for detection by current practice were detected with this method, thereby increasing sensitivity.
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Registered trials
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