Evidence map›Paper›PMID 34887408›Full record

ArticleNPJ genomic medicine2021

Accurate detection of circulating tumor DNA using nanopore consensus sequencing.

Alessio Marcozzi, Myrthe Jager, Martin Elferink, Roy Straver, Joost H van Ginkel, Boris Peltenburg, Li-Ting Chen, Ivo Renkens, Joyce van Kuik, Chris Terhaard and 5 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in NPJ genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
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

29 citing papers in PubMed, 40 citations in OpenAlex.

  1. Applications of circulating tumor DNA in unresectable and advanced non-small cell lung cancer immunotherapy: from stratification to therapeutic guidance.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026
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  13. The Cancer Genome in the Long Reads Era.Methods in molecular biology (Clifton, N.J.) · 2025
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 3 institutions in 1 country.

Alessio Marcozzi *Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.ORCID http://orcid.org/0000-0001-7477-3661
Myrthe Jager *Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.
Martin ElferinkDepartment of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.ORCID http://orcid.org/0000-0002-7940-7422
Roy StraverCenter for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.ORCID http://orcid.org/0000-0002-8031-1735
Joost H van GinkelDepartment of pathology, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.
Boris PeltenburgDepartment of Radiotherapy, UMC Utrecht Cancer Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Li-Ting ChenCenter for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.ORCID http://orcid.org/0000-0001-7956-5116
Ivo RenkensCenter for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.
Joyce van KuikDepartment of pathology, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.
Chris TerhaardDepartment of Radiotherapy, UMC Utrecht Cancer Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Remco de BreeDepartment of Head and Neck Surgical Oncology, UMC Utrecht Cancer Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Lot A DevrieseDepartment of Medical Oncology, UMC Utrecht Cancer Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Stefan M WillemsDepartment of pathology, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands.
Wigard P KloostermanCyclomics, Utrecht, CG, The Netherlands. wigard@cyclomics.com.
Jeroen de RidderCenter for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht University, Utrecht, CX, The Netherlands. J.deridder-4@umcutrecht.nl.ORCID http://orcid.org/0000-0002-0828-3477
Utrecht University · NLUniversity Medical Center Utrecht · NLUniversity Medical Center Groningen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Levels of circulating tumor DNA (ctDNA) in liquid biopsies may serve as a sensitive biomarker for real-time, minimally-invasive tumor diagnostics and monitoring. However, detecting ctDNA is challenging, as much fewer than 5% of the cell-free DNA in the blood typically originates from the tumor. To detect lowly abundant ctDNA molecules based on somatic variants, extremely sensitive sequencing methods are required. Here, we describe a new technique, CyclomicsSeq, which is based on Oxford Nanopore sequencing of concatenated copies of a single DNA molecule. Consensus calling of the DNA copies increased the base-calling accuracy ~60×, enabling accurate detection of TP53 mutations at frequencies down to 0.02%. We demonstrate that a TP53-specific CyclomicsSeq assay can be successfully used to monitor tumor burden during treatment for head-and-neck cancer patients. CyclomicsSeq can be applied to any genomic locus and offers an accurate diagnostic liquid biopsy approach that can be implemented in clinical workflows.

Identifiers

PMID34887408
PMCPMC8660781
OpenAlexW4225593386

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.