Evidence map›Paper›PMID 39805703›Full record

ArticleGenome research2025

Nanopore-based consensus sequencing enables accurate multimodal tumor cell-free DNA profiling.

Li-Ting Chen, Myrthe Jager, Dàmi Rebergen, Geertruid J Brink, Tom van den Ende, Willem Vanderlinden, Pauline Kolbeck, Marc Pagès-Gallego, Ymke van der Pol, Nicolle Besselink and 10 more

Abstract read
In one paragraph

Article in Genome research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

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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

20 authors.

Li-Ting ChenCenter for Molecular Medicine University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.ORCID 0000-0001-7956-5116
Myrthe JagerCenter for Molecular Medicine University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.ORCID 0000-0002-1406-1715
Dàmi RebergenCyclomics, 3584 CG Utrecht, The Netherlands.
Geertruid J BrinkDepartment of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Tom van den EndeDepartment of Medical Oncology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.ORCID 0000-0003-2830-2310
Willem VanderlindenSoft Condensed Matter and Biophysics, Department of Physics and Debye Institute for Nanomaterials Science, Utrecht University, 3584 CC Utrecht, The Netherlands.
Pauline KolbeckSoft Condensed Matter and Biophysics, Department of Physics and Debye Institute for Nanomaterials Science, Utrecht University, 3584 CC Utrecht, The Netherlands.
Marc Pagès-GallegoCenter for Molecular Medicine University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.ORCID 0000-0001-8888-5699
Ymke van der PolDepartment of Pathology, Cancer Centre Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, 1105 AZ, Amsterdam, The Netherlands.ORCID 0000-0002-3040-5848
Nicolle BesselinkCenter for Molecular Medicine University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.ORCID 0000-0002-8961-4441
Norbert MoldovanCancer Center Amsterdam, Imaging and Biomarkers, 1105 AZ, Amsterdam, The Netherlands.ORCID 0000-0003-4138-586X
Nizar HamiDepartment of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
Wigard P KloostermanCyclomics, 3584 CG Utrecht, The Netherlands.
Hanneke van LaarhovenDepartment of Medical Oncology, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.
Florent MouliereCancer Center Amsterdam, Imaging and Biomarkers, 1105 AZ, Amsterdam, The Netherlands.ORCID 0000-0001-7043-0514
Ronald ZweemerDepartment of Gynecologic Oncology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.ORCID 0000-0003-1829-7773
Jan LipfertSoft Condensed Matter and Biophysics, Department of Physics and Debye Institute for Nanomaterials Science, Utrecht University, 3584 CC Utrecht, The Netherlands.ORCID 0000-0003-3613-7896
Sarah DerksOncode Institute, 3521 AL Utrecht, The Netherlands.ORCID 0000-0002-4547-7457
Alessio MarcozziCyclomics, 3584 CG Utrecht, The Netherlands; alessio.marcozzi@gmail.com j.deridder-4@umcutrecht.nl.ORCID 0000-0001-7477-3661
Jeroen de RidderCenter for Molecular Medicine University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands; alessio.marcozzi@gmail.com j.deridder-4@umcutrecht.nl.ORCID 0000-0002-0828-3477

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Shallow genome-wide cell-free DNA sequencing holds great promise for noninvasive cancer monitoring by providing reliable copy number alteration (CNA) and fragmentomic profiles. Single-nucleotide variations (SNVs) are, however, much harder to identify with low sequencing depth due to sequencing errors. Here, we present Nanopore Rolling Circle Amplification (RCA)-enhanced Consensus Sequencing (NanoRCS), which leverages RCA and consensus calling based on genome-wide long-read nanopore sequencing to enable simultaneous multimodal tumor fraction (TF) estimation through SNVs, CNAs, and fragmentomics. The efficacy of NanoRCS is tested on 18 cancer patient samples and seven healthy controls, demonstrating its ability to reliably detect TFs as low as 0.24%. In vitro experiments confirm that SNV measurements are essential for detecting TFs below 3%. NanoRCS provides an opportunity for cost-effective and rapid sample processing, which aligns well with clinical needs, particularly in settings where quick and accurate cancer monitoring is essential for personalized treatment strategies.

Indexed as

Circulating Tumor DNANanoporesNanopore SequencingNeoplasmsSequence Analysis, DNADNA Copy Number VariationsHigh-Throughput Nucleotide SequencingHumansPolymorphism, Single NucleotideCirculating Tumor DNA

Identifiers

PMID39805703
PMCPMC12047234

What OpenQuestion holds

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Registered trials

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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.