Evidence map›Paper›PMID 41339622›Full record

ArticleNature communications2025

Programmable Argonaute-mediated single-nucleotide variant sequencing of cell-free DNA for multi-cancer early detection.

Chong Guo, Jiongyu Zhang, Shuo Zhang, Jeong Moon, Rui Yang, Xin Guan, Chengyu Hou, Minjie Pei, Kurt T Schalper, Daniel Schreiber and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Chong GuoDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Jiongyu ZhangDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.ORCID http://orcid.org/0000-0002-9725-1345
Shuo ZhangDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Jeong MoonDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Rui YangDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Xin GuanDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.ORCID http://orcid.org/0009-0002-0878-3778
Chengyu HouDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Minjie PeiDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Kurt T SchalperDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.ORCID http://orcid.org/0009-0001-4842-4086
Daniel SchreiberDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Xingye LiuDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA.
Lorrie PerpetuaResearch Tissue Repository, University of Connecticut Health Center, Farmington, CT, USA.
Yueming ChangNeag Comprehensive Cancer Center, School of Medicine, University of Connecticut Health Center, Farmington, CT, USA.
Melinda SandersResearch Tissue Repository, University of Connecticut Health Center, Farmington, CT, USA.
Benjamin RistauDepartment of Surgery, Division of Urology, University of Connecticut Health Center, Farmington, CT, USA.
Changchun LiuDepartment of Biomedical Engineering, University of Connecticut Health Center, Farmington, CT, USA. chaliu@uchc.edu.ORCID http://orcid.org/0000-0002-4931-986X

Funding

Using human skin grafted mice to identify biomarkers of exposure and study effects of radiation on skinU01AI148306 · NIAID · BRIGHAM AND WOMEN'S HOSPITAL · PI CLARK, RACHAEL ANN · 2020 to 2024
$2.7M
Low-Cost CRISPR-on-Paper for Cervical Cancer Screening at the Point of CareU01CA269147 · NCI · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI Changchun Liu · 2022 to 2026
$2.6M
NCI NIH HHS U01 CA269147NIAID NIH HHS U01 AI148306U.S. Department of Health & Human Services | National Institutes of Health (NIH) U01AI148306U.S. Department of Health & Human Services | National Institutes of Health (NIH) U01CA269147
6 · The paper itself

Abstract

Mutation sequencing of cell-free DNA (cfDNA) in liquid biopsy is crucial for tumor precision medicine, resistance profiling, and clinical decision-making. However, cfDNA mutation profiling in blood samples remains challenging due to its low abundance and high background noise. Here, we develop an Enzymatic Cleavage-directed Single Nucleotide Variant Sequencing (EC-SNV-Seq) assay technology for multiple cfDNA mutation detections. The EC-SNV-Seq assay integrates Argonaute-mediated cleavage and stem-loop DNA-initiated cascade-PCR amplification, achieving a sensitivity of 0.01% variant allele frequency. As a proof of concept, we apply the EC-SNV-Seq assay to detect multiple cfDNA mutations in KRAS, EGFR, and PIK3CA genes with single-nucleotide resolution. We further validate that EC-SNV-Seq detects early-stage multi-cancer and identifies single-nucleotide variants in a single patient plasma sample. Lastly, we evaluate its feasibility for multi-cancer early detection in population-scale screening using pooled plasma samples. The EC-SNV-Seq assay can enable highly sensitive and specific identification of low-frequency mutations, facilitating early cancer diagnosis and personalized treatment strategies.

Indexed as

Argonaute ProteinsCell-Free Nucleic AcidsEarly Detection of CancerNeoplasmsBiomarkers, TumorClass I Phosphatidylinositol 3-KinasesDNA Mutational AnalysisErbB ReceptorsHigh-Throughput Nucleotide SequencingHumansLiquid BiopsyMutationPolymorphism, Single NucleotideProto-Oncogene Proteins p21(ras)Argonaute ProteinsBiomarkers, TumorCell-Free Nucleic AcidsClass I Phosphatidylinositol 3-KinasesEGFR protein, humanErbB ReceptorsKRAS protein, humanPIK3CA protein, humanProto-Oncogene Proteins p21(ras)

Identifiers

PMID41339622
PMCPMC12780039

What OpenQuestion holds

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Registered trials

None linked

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.