Evidence map›Paper›PMID 39991725›Full record

ArticleExperimental and therapeutic medicine2025

Comparison of next‑generation sequencing quality metrics and concordance in the detection of cancer‑specific molecular alterations between formalin‑fixed paraffin‑embedded and fresh‑frozen samples in comprehensive genomic profiling with the Illumina® TruSight Oncology 500 assay.

Dušan Loderer, Andrea Hornáková, Katarína Tobiášová, Katarína Lešková, Erika Halašová, Zuzana Danková, Kamil Biringer, Erik Kúdela, Tomáš Rokos, Anton Dzian and 5 more

Abstract read
In one paragraph

Article in Experimental and therapeutic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 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

15 authors.

Dušan LodererBiomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.
Andrea HornákováBiomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.
Katarína TobiášováDepartment of Pathological Anatomy, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava and University Hospital in Martin, 036 01 Martin, Slovakia.
Katarína LeškováDepartment of Pathological Anatomy, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava and University Hospital in Martin, 036 01 Martin, Slovakia.
Erika HalašováBiomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.
Zuzana DankováBiomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.
Kamil BiringerClinic of Obstetrics and Gynaecology, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.
Erik KúdelaClinic of Obstetrics and Gynaecology, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.
Tomáš RokosClinic of Obstetrics and Gynaecology, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.
Anton DzianDepartment of Thoracic Surgery, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 59 Martin, Slovakia.
Juraj MiklušicaClinic of General, Visceral and Transplant Surgery, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 59 Martin, Slovakia.
Peter MikolajčíkClinic of General, Visceral and Transplant Surgery, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 59 Martin, Slovakia.
Marek SmolárClinic of General, Visceral and Transplant Surgery, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 59 Martin, Slovakia.
Lukáš PlankDepartment of Pathological Anatomy, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava and University Hospital in Martin, 036 01 Martin, Slovakia.
Marián GrendárBiomedical Centre Martin, Jessenius Faculty of Medicine in Martin, Comenius University Bratislava, 036 01 Martin, Slovakia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Next-generation sequencing (NGS) technology is routinely employed to detect clinically significant variants in the field of precision medicine. Formalin-fixed paraffin-embedded (FFPE) tissues remain a widely used source of genetic material for diagnostic purposes due to their long-term storage stability, which preserves the architecture of tumour tissues. However, the degradation of nucleic acids (NAs) that occurs during the fixation process can lead to unreliable results or hinder analysis. Considering the challenges posed by the quality and quantity of nucleic acids extracted from FFPE samples, the present study aimed to compare paired fresh-frozen (FF) and FFPE samples. The present study also aimed to assess the concordance rate of quality control metrics of sequenced libraries and identify variants and biomarkers between FFPE and FF tissues. The Illumina

Indexed as

concordanceformalin-fixed paraffin-embedded tissuefresh-frozen tissueIllumina® TruSight Oncology 500 assaynext generation sequencingPierianDx Clinical Genomics Workspacequality metrics

Identifiers

PMID39991725
PMCPMC11843196

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.