Evidence map›Paper›PMID 28559929›Full record

ArticleBioData mining2017

Gene Set Enrichment Analyses: lessons learned from the heart failure phenotype.

Vinicius Tragante, Johannes M I H Gho, Janine F Felix, Ramachandran S Vasan, Nicholas L Smith, Benjamin F Voight, CHARGE Heart Failure Working Group, Colin Palmer, Pim van der Harst, Jason H Moore and 1 more

Abstract read
In one paragraph

Article in BioData mining, 2017. 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.

  1. A practical guide to functional enrichment analysis.Frontiers in bioinformatics · 2026
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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

11 authors.

Vinicius TraganteDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.ORCID 0000-0002-8223-8957
Johannes M I H GhoDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
Janine F FelixDepartment of Epidemiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Ramachandran S VasanDepartments of Medicine and Preventive Medicine, Boston University School of Medicine, Boston, MA USA.
Nicholas L SmithDepartment of Epidemiology, University of Washington, Seattle, WA USA.
Benjamin F VoightDepartment of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
CHARGE Heart Failure Working Group
Colin PalmerPopulation Pharmacogenetics Group, University of Dundee, Dundee, UK.
Pim van der HarstDepartment of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Jason H MooreDepartment of Biostatistics and Epidemiology, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
Folkert W AsselbergsDepartment of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.

Funding

Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
NLM NIH HHS R01 LM010098
6 · The paper itself

Abstract

backgroundGenetic studies for complex diseases have predominantly discovered main effects at individual loci, but have not focused on genomic and environmental contexts important for a phenotype. Gene Set Enrichment Analysis (GSEA) aims to address this by identifying sets of genes or biological pathways contributing to a phenotype, through gene-gene interactions or other mechanisms, which are not the focus of conventional association methods.

resultsApproaches that utilize GSEA can now take input from array chips, either gene-centric or genome-wide, but are highly sensitive to study design, SNP selection and pruning strategies, SNP-to-gene mapping, and pathway definitions. Here, we present lessons learned from our experience with GSEA of heart failure, a particularly challenging phenotype due to its underlying heterogeneous etiology.

conclusionsThis case study shows that proper data handling is essential to avoid false-positive results. Well-defined pipelines for quality control are needed to avoid reporting spurious results using GSEA.

Indexed as

Coronary artery diseaseGene set enrichment analysesHeart failure

Identifiers

PMID28559929
PMCPMC5446754

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.