Evidence map›Paper›PMID 40141463›Full record

ArticleInternational journal of molecular sciences2025

Exploring the Potential of Optical Genome Mapping in the Diagnosis and Prognosis of Soft Tissue and Bone Tumors.

Alejandro Berenguer-Rubio, Esperanza Such, Neus Torres Hernández, Paula González-Rojo, Álvaro Díaz-González, Gayane Avetisyan, Carolina Gil-Aparicio, Judith González-López, Nicolay Pantoja-Borja, Luis Alberto Rubio-Martínez and 11 more

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
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

21 authors.

Alejandro Berenguer-RubioCytogenetic Laboratory, Instituto de Investigación Sanitaria La Fe, 46026 València, Spain.ORCID 0009-0009-8571-4523
Esperanza SuchCytogenetic Laboratory, Instituto de Investigación Sanitaria La Fe, 46026 València, Spain.ORCID 0000-0001-6892-403X
Neus Torres HernándezCytogenetic Laboratory, Instituto de Investigación Sanitaria La Fe, 46026 València, Spain.ORCID 0000-0003-3902-474X
Paula González-RojoPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.ORCID 0000-0002-8560-1715
Álvaro Díaz-GonzálezCytogenetic Laboratory, Instituto de Investigación Sanitaria La Fe, 46026 València, Spain.
Gayane AvetisyanCytogenetic Laboratory, Instituto de Investigación Sanitaria La Fe, 46026 València, Spain.
Carolina Gil-AparicioCytogenetic Laboratory, Instituto de Investigación Sanitaria La Fe, 46026 València, Spain.
Judith González-LópezPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.ORCID 0009-0008-4836-6243
Nicolay Pantoja-BorjaPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Luis Alberto Rubio-MartínezPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Soraya Hernández-GirónPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
María Soledad Valera-CuestaPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Cristina Ramírez-FuentesRadiology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
María Simonet-RedondoRadiology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Roberto Díaz-BeveridgeMedical Oncology Service, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Carolina de la CalvaOrthopaedics and Traumatology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
José Vicente Amaya-ValeroOrthopaedics and Traumatology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Cristina Ballester-IbáñezDepartment of Orthopaedic Surgery, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Alessandro LiquoriDepartment of Hematology, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Francisco GinerPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.
Empar Mayordomo-ArandaPathology Department, Hospital Universitari i Politècnic La Fe, 46026 València, Spain.

Funding

Generalitat Valenciana CIACIF/2022/134Instituto de Investigación Sanitaria La Fe 2023-1207-1Ministerio de Ciencia, Innovación y Universidades PID2021-126138OB-I00
6 · The paper itself

Abstract

Sarcomas are rare malignant tumors of mesenchymal origin with a high misdiagnosis rate due to their heterogeneity and low incidence. Conventional diagnostic techniques, such as Fluorescence In Situ Hybridization (FISH) and Next-Generation Sequencing (NGS), have limitations in detecting structural variations (SVs), copy number variations (CNVs), and predicting clinical behavior. Optical genome mapping (OGM) provides high-resolution genome-wide analysis, improving sarcoma diagnosis and prognosis assessment. This study analyzed 53 sarcoma samples using OGM. Ultra-high molecular weight (UHMW) DNA was extracted from core and resection biopsies, and data acquisition was performed with the

Indexed as

Bone NeoplasmsChromosome MappingSarcomaSoft Tissue NeoplasmsAdolescentAdultAgedDNA Copy Number VariationsFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPrognosisYoung Adultbone tumorscytogeneticsdiagnosisoptical genome mappingsoft tissue tumors

Identifiers

PMID40141463
PMCPMC11942867

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.