ArticleNature biomedical engineering2022
Massively parallel enrichment of low-frequency alleles enables duplex sequencing at low depth.
Article in Nature biomedical engineering, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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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
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Circulating Tumor DNA in the Immediate Postoperative Setting.Annals of surgical oncology · 2024Pooled it
- Minimal Residual Disease Enhances Prognostic Stratification beyond Pathologic Response in Resectable Non-Small Cell Lung Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026Trial
- Advancing the applications of liquid biopsies in oncology.Nature reviews. Genetics · 2026Review
- Minimal Residual Disease via circulating tumor DNA Predicts Exceptional Response in HER2-Positive Metastatic Breast Cancer.medRxiv : the preprint server for health sciences · 2026Article
- Single-nucleotide variant profiling in liquid biopsy with RECO-Cas.Science advances · 2026Article
- Genome-wide extraction of differentially methylated DNA regions using adapter-anchored proximity primers.Nucleic acids research · 2026Article
- From residual risk to precision intervention: the evolving role of minimal residual disease in breast cancer management.Cancer biology & medicine · 2025Review
- Clinical validation of an HPV whole genome sequencing assay for molecular residual disease detection in HPV-associated head and neck cancer patients treated with surgery.medRxiv : the preprint server for health sciences · 2025Article
- ctDNA MRD after CAR-T.Blood advances · 2025Article
- Measurable residual disease detection after CAR-T may predict response in patients with large B-cell lymphoma.Blood advances · 2025Article
- MUTE-Seq: An Ultrasensitive Method for Detecting Low-Frequency Mutations in cfDNA With Engineered Advanced-Fidelity FnCas9.Advanced materials (Deerfield Beach, Fla.) · 2025Article
- A Differential Depth Sequencing Method, SPRE-Seq, for Enhancing Targeted Region Coverage in Hybridization Capture-Based NGS.Engineering in life sciences · 2025Article
- Enspyre: a novel enrichment technology for selected DNA variants using pyrophosphorolysis.Nucleic acids research · 2025Article
- The 3PM transformation potential of minimal residual disease in solid tumor management: a bibliometric analysis and review.The EPMA journal · 2025Review
- Early Postoperative Minimal Residual Disease Detection with MAESTRO Is Associated with Recurrence and Worse Survival in Patients with Head and Neck Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Observational
- Quantitative and sensitive sequencing of somatic mutations induced by a maize transposon.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Role of Circulating Tumor DNA in Adapting Immunotherapy Approaches in Breast Cancer.Current oncology (Toronto, Ont.) · 2025Review
- Methyl-CODEC enables simultaneous methylation and duplex sequencing.Nucleic acids research · 2025Article
- DirectHRD enables sensitive scar-based classification of homologous recombination deficiency.Nucleic acids research · 2025Article
- Optimizing the NGS-based discrimination of multiple lung cancers from the perspective of evolution.NPJ precision oncology · 2025Article
Corrections and comments
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Authors and funding
20 authors at 5 institutions in 1 country.
Funding
Abstract
Assaying for large numbers of low-frequency mutations requires sequencing at extremely high depth and accuracy. Increasing sequencing depth aids the detection of low-frequency mutations yet limits the number of loci that can be simultaneously probed. Here we report a method for the accurate tracking of thousands of distinct mutations that requires substantially fewer reads per locus than conventional hybrid-capture duplex sequencing. The method, which we named MAESTRO (for minor-allele-enriched sequencing through recognition oligonucleotides), combines massively parallel mutation enrichment with duplex sequencing to track up to 10,000 low-frequency mutations, with up to 100-fold fewer reads per locus. We show that MAESTRO can be used to test for chimaerism by tracking donor-exclusive single-nucleotide polymorphisms in sheared genomic DNA from human cell lines, to validate whole-exome sequencing and whole-genome sequencing for the detection of mutations in breast-tumour samples from 16 patients, and to monitor the patients for minimal residual disease via the analysis of cell-free DNA from liquid biopsies. MAESTRO improves the breadth, depth, accuracy and efficiency of mutation testing by 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.