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Analyse des QTL d'expression×Analyse d'enrichissement de jeux de gènes (GSEA)×
DomaineBio-informatiqueBio-informatique
FamilleProcess / pipelineProcess / pipeline
Année d'origine2001 (term coined); widely adopted after 20052005 (seminal PNAS paper; predecessor concept in Mootha et al. 2003)
Auteur d'origineRitsert C. Jansen & Jan-Peter NapAravind Subramanian, Pablo Tamayo, Vamsi K. Mootha, Jill P. Mesirov, Todd R. Golub, Eric S. Lander et al. (Broad Institute)
TypeAssociation mapping methodFunctional genomics / enrichment analysis
Source fondatriceJansen, R. C., & Nap, J.-P. (2001). Genetical genomics: the added value from segregation. Trends in Genetics, 17(7), 388–391. DOI ↗Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., & Mesirov, J. P. (2005). Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles. Proceedings of the National Academy of Sciences, 102(43), 15545–15550. DOI ↗
AliaseQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL studyGSEA, gene-set analysis, functional enrichment analysis, pathway-level enrichment
Apparentées65
RésuméeQTL analysis identifies genomic loci (variants, typically SNPs) whose genotype statistically associates with variation in the expression level of one or more genes. By jointly profiling DNA-level variation and RNA-level expression in the same individuals, eQTL studies decode the regulatory grammar of the genome — revealing which variants control how much a gene is transcribed, in which tissues, and under what conditions.Gene Set Enrichment Analysis (GSEA) is a computational method that determines whether a predefined set of genes — representing a biological pathway, process, or function — shows statistically significant, coordinated differences between two biological conditions. Unlike simple fold-change filtering, GSEA operates on all measured genes ranked by a correlation metric, detecting subtle but consistent shifts across an entire pathway even when no single gene passes a significance threshold.
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ScholarGateComparer des méthodes: eQTL Analysis · Gene Set Enrichment Analysis. Consulté le 2026-06-18 sur https://scholargate.app/fr/compare