Evidence map›Paper›PMID 41405962›Full record

ArticleBriefings in bioinformatics2025

Benchmarking single-sample gene set scoring methods for application in precision medicine.

Daniel Toro-Domínguez, Chang Wang, Iván Ellson-Lancho, Jordi Martorell-Marugán, Raúl López-Domínguez, Pedro Carmona-Sáez, Marta E Alarcón-Riquelme, Frédéric Baribaud

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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

8 authors.

Daniel Toro-DomínguezUnit of Inflammatory Diseases, Department of Environmental Medicine, Karolinska Institute, Nobel väg 13, Solna 171 67, Sweden.ORCID 0000-0001-8440-312X
Chang WangBristol Myers Squibb Research & Early Development, 3551 Lawrenceville Road, Princeton 08648, New Jersey, United States.
Iván Ellson-LanchoGENYO. Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, PTS Granada, Avenida de la Ilustración 114, Granada 18016, Spain.ORCID 0000-0001-6307-3141
Jordi Martorell-MarugánGENYO. Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, PTS Granada, Avenida de la Ilustración 114, Granada 18016, Spain.ORCID 0000-0002-5186-0735
Raúl López-DomínguezGENYO. Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, PTS Granada, Avenida de la Ilustración 114, Granada 18016, Spain.ORCID 0000-0001-8634-117X
Pedro Carmona-SáezGENYO. Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, PTS Granada, Avenida de la Ilustración 114, Granada 18016, Spain.ORCID 0000-0002-6173-7255
Marta E Alarcón-RiquelmeUnit of Inflammatory Diseases, Department of Environmental Medicine, Karolinska Institute, Nobel väg 13, Solna 171 67, Sweden.
Frédéric BaribaudBristol Myers Squibb Research & Early Development, 3551 Lawrenceville Road, Princeton 08648, New Jersey, United States.

Funding

Agencia estatal de Investigación-Ministerio de Ciencia e Innovación PTA2021-021013-IUniversidad de Granada PP2024.PP-07
6 · The paper itself

Abstract

Gene set-based single-sample scoring methods are promising to elucidate patient level disease heterogeneity and enable functional interpretation of molecular data for precision medicine approaches. Despite the availability of numerous algorithms, their performance under different scenarios and for downstream applications for precision medicine approaches has not been systematically evaluated. In this study, we conducted a comprehensive survey of an exhaustive list of single-sample scoring methods to assess their stability and reproducibility performances under commo scenarios which include limitations of input data or data integration across studies. We also evaluated their performances for downstream patient stratification and clinical association analyses, as well as predictive modeling of disease states. The in-depth characterization of these scoring methods highlights the importance for a rational design of analysis strategies and provides fundamental insights into method selection under different scenarios or for different applications.

Indexed as

BenchmarkingComputational BiologyPrecision MedicineAlgorithmsHumansReproducibility of Resultsdata integrationgene set scoringpatient stratificationprecision medicinepredictive modelingsingle-sampletranscriptomics

Identifiers

PMID41405962
PMCPMC12710473

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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.