Evidence map›Paper›PMID 32026945›Full record

ArticleBriefings in bioinformatics2021

Toward a gold standard for benchmarking gene set enrichment analysis.

Ludwig Geistlinger, Gergely Csaba, Mara Santarelli, Marcel Ramos, Lucas Schiffer, Nitesh Turaga, Charity Law, Sean Davis, Vincent Carey, Martin Morgan and 2 more

Abstract read
In one paragraph

Article in Briefings in bioinformatics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
88citing papers in PubMed, 2 pooled it
–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

88 citing papers in PubMed, 2 syntheses or guidelines pooled it.

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  11. A practical guide to functional enrichment analysis.Frontiers in bioinformatics · 2026
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28 more citing papers are in PubMed but not listed here.

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

12 authors.

Ludwig GeistlingerGraduate School of Public Health and Health Policy, City University of New York, New York, NY 10027, USA.
Gergely CsabaInstitute for Implementation Science and Population Health, City University of New York, New York, NY 10027, USA.
Mara SantarelliInstitute for Bioinformatics, Ludwig-Maximilians-Universität München, 80333 Munich, Germany.
Marcel RamosRoswell Park Cancer Institute, Buffalo, NY 14203, USA.
Lucas SchifferGraduate School of Arts and Sciences, Boston University, Boston, MA 02215, USA.
Nitesh TuragaEpigenetics and Development Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Charity LawDepartment of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia.
Sean DavisCenter for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA.
Vincent CareyHarvard Medical School, Boston, MA 02215, USA.
Martin Morgan
Ralf Zimmer
Levi WaldronGraduate School of Public Health and Health Policy, City University of New York, New York, NY 10027, USA.

Funding

Project-002U41HG004059 · NHGRI · ROSWELL PARK CANCER INSTITUTE CORP · PI MORGAN, MARTIN T · 2011 to 2020
$13.2M
Cancer Genomics:Integrative and Scalable Solutions in R / BioconductorU24CA180996 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI MORGAN, MARTIN T, WALDRON, LEVI · 2014 to 2023
$6.9M
NCI NIH HHS U24 CA180996NHGRI NIH HHS U41 HG004059
6 · The paper itself

Abstract

motivationAlthough gene set enrichment analysis has become an integral part of high-throughput gene expression data analysis, the assessment of enrichment methods remains rudimentary and ad hoc. In the absence of suitable gold standards, evaluations are commonly restricted to selected datasets and biological reasoning on the relevance of resulting enriched gene sets.

resultsWe develop an extensible framework for reproducible benchmarking of enrichment methods based on defined criteria for applicability, gene set prioritization and detection of relevant processes. This framework incorporates a curated compendium of 75 expression datasets investigating 42 human diseases. The compendium features microarray and RNA-seq measurements, and each dataset is associated with a precompiled GO/KEGG relevance ranking for the corresponding disease under investigation. We perform a comprehensive assessment of 10 major enrichment methods, identifying significant differences in runtime and applicability to RNA-seq data, fraction of enriched gene sets depending on the null hypothesis tested and recovery of the predefined relevance rankings. We make practical recommendations on how methods originally developed for microarray data can efficiently be applied to RNA-seq data, how to interpret results depending on the type of gene set test conducted and which methods are best suited to effectively prioritize gene sets with high phenotype relevance. AVAILABILITY: http://bioconductor.org/packages/GSEABenchmarkeR. CONTACT: ludwig.geistlinger@sph.cuny.edu.

Indexed as

AnimalsBenchmarkingDatabases, GeneticGene Expression ProfilingGenomicsHumansRNA-SeqSoftwaregene expression datagene set analysismicroarraypathway analysisRNA-seq

Identifiers

PMID32026945
PMCPMC7820859

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.