Compara mètodes

	Anàlisi d'enriquiment de conjunts de gens assistida per aprenentatge automàtic	Expressió Diferencial en RNA-seq
Camp	Bioinformàtica	Bioinformàtica
Família	Process / pipeline	Process / pipeline
Any d'origen	2005 (GSEA); ML integration from ~2015 onward	2008–2010 (RNA-seq DE methodology established)
Autor original	Subramanian et al. (GSEA foundation, 2005); various ML extensions thereafter	Multiple groups; foundational methods from Anders & Huber (DESeq, 2010), Robinson, McCarthy & Smyth (edgeR, 2010)
Tipus	Computational enrichment analysis with machine learning	Quantitative genomics pipeline
Font seminal	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.	Love, M. I., Huber, W., & Anders, S. (2014). Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biology, 15(12), 550.
Àlies	ML-GSEA, deep learning pathway enrichment, neural GSEA, ML-assisted pathway analysis	RNA-seq DE analysis, transcriptomic differential expression, bulk RNA-seq DE, DEA
Relacionats	6	6
Resum	Machine learning-assisted gene set enrichment analysis (ML-GSEA) extends the classical GSEA framework by incorporating supervised or unsupervised ML models — such as random forests, neural networks, or deep learning architectures — to improve the detection, ranking, and biological interpretation of enriched gene sets from high-throughput expression data. The approach is particularly valuable for complex, non-linear gene-set relationships that classical enrichment statistics may miss.	RNA-seq differential expression (DE) analysis identifies genes whose transcript abundance differs significantly between two or more biological conditions — for example, treated versus control, or diseased versus healthy tissue. Starting from raw sequencing reads, the pipeline moves through alignment, count-based normalization, statistical modeling of count dispersion, hypothesis testing, and multiple-testing correction to produce a ranked list of differentially expressed genes accompanied by fold-change estimates and adjusted p-values.