Evidence map›Paper›PMID 40841877›Full record

ArticleBMC bioinformatics2025

GeneSetCluster 2.0: a comprehensive toolset for summarizing and integrating gene-sets analysis.

Asier Ortega-Legarreta, Alberto Maillo, Daniel Mouzo, Ana Rosa López-Pérez, Lara Kular, Majid Pahlevan Kakhki, Maja Jagodic, Jesper Tegner, Vincenzo Lagani, Ewoud Ewing and 1 more

Abstract read
In one paragraph

Article in BMC bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Spatial Transcriptomics Reveals Location-Specific Tumor Cell Subtypes and Signaling within Multifocal Small Intestinal Neuroendocrine Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
    Article
  2. 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.

Asier Ortega-Legarreta *Translational Bioinformatics Unit, Navarrabiomed, Hospital Universitario de Navarra (HUN), Universidad Pública de Navarra (UPNA), IdiSNA, 31008, Pamplona, Spain.
Alberto Maillo *Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Daniel MouzoTranslational Bioinformatics Unit, Navarrabiomed, Hospital Universitario de Navarra (HUN), Universidad Pública de Navarra (UPNA), IdiSNA, 31008, Pamplona, Spain.
Ana Rosa López-PérezTranslational Bioinformatics Unit, Navarrabiomed, Hospital Universitario de Navarra (HUN), Universidad Pública de Navarra (UPNA), IdiSNA, 31008, Pamplona, Spain.
Lara KularDepartment of Clinical Neuroscience, Karolinska Institutet, and Center for Molecular Medicine, Karolinska University Hospital, SE-171 76, Stockholm, Sweden.
Majid Pahlevan KakhkiDepartment of Clinical Neuroscience, Karolinska Institutet, and Center for Molecular Medicine, Karolinska University Hospital, SE-171 76, Stockholm, Sweden.
Maja JagodicDepartment of Clinical Neuroscience, Karolinska Institutet, and Center for Molecular Medicine, Karolinska University Hospital, SE-171 76, Stockholm, Sweden.
Jesper TegnerBiological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Vincenzo LaganiBiological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.
Ewoud EwingDepartment of Clinical Neuroscience, Karolinska Institutet, and Center for Molecular Medicine, Karolinska University Hospital, SE-171 76, Stockholm, Sweden. ewoud.ewing@ki.se.
David Gomez-CabreroBiological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia. david.gomezcabrero@kaust.edu.sa.

Funding

European Union's Horizon Europe programme XPAND (No. 101070950)KAUST Baseline Award no. BAS/1/1078-01-01KAUST Baseline Awards no. BAS/1/1093-01-01
6 · The paper itself

Abstract

backgroundGene-Set Analysis (GSA) is commonly used to analyze high-throughput experiments. However, GSA cannot readily disentangle clusters or pathways due to redundancies in upstream knowledge bases, which hinders comprehensive exploration and interpretation of biological findings. To address this challenge, we developed GeneSetCluster, an R package designed to summarize and integrate GSA results. Over time, we and users as well identified limitations in the original version, such as difficulties in managing redundancies across multiple gene-sets, large computational times, and its lack of accessibility for users without programming expertise.

resultsWe present GeneSetCluster 2.0, a comprehensive upgrade that delivers methodological, computational, interpretative, and user-experience enhancements. Methodologically, GeneSetCluster 2.0 introduces a novel approach to address duplicated gene-sets and implements a seriation-based clustering algorithm that reorders results, aiding pattern identification. Computationally, the package is optimized for parallel processing, significantly reducing execution time. GeneSetCluster 2.0 enhances cluster annotations by associating clusters with relevant tissues and biological processes to improve biological interpretation, particularly for human and mouse data. To broaden accessibility, we have developed a user-friendly web application enabling non-programmers to use it. This version also ensures seamless integration between the R package, catering to users with programming expertise, and the web application for broader audiences. We evaluated the updates in a single-cell RNA public dataset.

conclusionGeneSetCluster 2.0 offers substantial improvements over its predecessor. Furthermore, by bridging the gap between bioinformaticians and clinicians in multidisciplinary teams, GeneSetCluster 2.0 facilitates collaborative research. The R package and web application, along with detailed installation and usage guides, are available on GitHub ( https://github.com/TranslationalBioinformaticsUnit/GeneSetCluster2.0 ), and the web application can be accessed at https://translationalbio.shinyapps.io/genesetcluster/ .

Indexed as

Computational BiologyGene Expression ProfilingSoftwareAlgorithmsCluster AnalysisClustering AlgorithmsData-miningFunctional annotationGene-set analysisGene-set enrichment analysisSeriation-based clusteringWeb application

Identifiers

PMID40841877
PMCPMC12372222

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LicenceCC BY
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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.