Evidence map›Paper›PMID 37894392›Full record

ArticleCancers2023

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays.

Ariane Hallermayr, Thomas Keßler, Moritz Fujera, Ben Liesfeld, Samuel Bernstein, Simon von Ameln, Denny Schanze, Verena Steinke-Lange, Julia M A Pickl, Teresa M Neuhann and 1 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.2field-weighted citation impact, top 12% 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

8 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Advances in cfDNA research for pregnancy-related diseases.Frontiers in cell and developmental biology · 2025
    Review
  6. Review
  7. Review
  8. 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

11 authors at 4 institutions in 1 country.

Ariane HallermayrMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.ORCID 0000-0002-6503-1874
Thomas KeßlerMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.
Moritz FujeraMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.
Ben LiesfeldLimbus Medical Technologies GmbH, 18055 Rostock, Germany.
Samuel BernsteinLimbus Medical Technologies GmbH, 18055 Rostock, Germany.
Simon von AmelnImmune-Oncological Centre Cologne (IOZK), 50674 Cologne, Germany.
Denny SchanzeInstitute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, 39120 Magdeburg, Germany.
Verena Steinke-LangeMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.ORCID 0000-0001-8491-3234
Julia M A PicklMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.
Teresa M NeuhannMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.
Elke Holinski-FederMGZ-Medizinisch Genetisches Zentrum, 80335 Munich, Germany.ORCID 0000-0002-5172-2818
LMU Klinikum · DEMedical Genetics Center · DEUniversity Hospital Cologne · DEUniversity Hospital Magdeburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLiquid biopsy enables the non-invasive analysis of genetic tumor variants in circulating free DNA (cfDNA) in plasma. Accurate analytical validation of liquid biopsy NGS assays is required to detect variants with low variant allele frequencies (VAFs).

methodsSix types of commercial cfDNA reference materials and 42 patient samples were analyzed using a duplex-sequencing-based liquid biopsy NGS assay.

resultsWe comprehensively evaluated the similarity of commercial cfDNA reference materials to native cfDNA. We observed significant differences between the reference materials in terms of wet-lab and sequencing quality as well as background noise. No reference material resembled native cfDNA in all performance metrics investigated. Based on our results, we established guidelines for the selection of appropriate reference materials for the different steps in performance evaluation. The use of inappropriate materials and cutoffs could eventually lead to a lower sensitivity for variant detection.

conclusionCareful consideration of commercial reference materials is required for performance evaluation of liquid biopsy NGS assays. While the similarity to native cfDNA aids in the development of experimental protocols, reference materials with well-defined variants are preferable for determining sensitivity and precision, which are essential for accurate clinical interpretation.

Indexed as

cancercfDNA reference materialsctDNAduplex sequencingliquid biopsymosaic diseasevalidation

Identifiers

PMID37894392
PMCPMC10605119
OpenAlexW4387696512

What OpenQuestion holds

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LicenceCC BY
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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.