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	Bayesiansk anrikningsanalys av genvägar	eQTL-analys
Ämnesområde	Bioinformatik	Bioinformatik
Familj	Process / pipeline	Process / pipeline
Ursprungsår	2001–2007	2001 (term coined); widely adopted after 2005
Upphovsperson	Pierre Baldi, Anthony Long; Michael Newton et al. (foundational Bayesian gene-set frameworks)	Ritsert C. Jansen & Jan-Peter Nap
Typ	Probabilistic gene-set testing	Association mapping method
Ursprungskälla	Baldi, P., & Long, A. D. (2001). A Bayesian framework for the analysis of microarray expression data: regularized t-test and statistical inferences of gene changes. Bioinformatics, 17(6), 509–519.	Jansen, R. C., & Nap, J.-P. (2001). Genetical genomics: the added value from segregation. Trends in Genetics, 17(7), 388–391.
Alias	Bayesian gene-set testing, Bayesian GSEA, Bayesian functional enrichment, BGSEA	eQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study
Närliggande	6	6
Sammanfattning	Bayesian pathway enrichment analysis tests whether a predefined set of genes — a biological pathway — is systematically overrepresented among genes that show evidence of differential activity in an experiment. Unlike classical over-representation tests, it encodes prior biological knowledge as a prior distribution and updates it with the observed expression data, yielding posterior probabilities of enrichment rather than p-values. This probabilistic framing naturally handles small samples, multiple pathways, and uncertainty propagation in a coherent statistical framework.	eQTL 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.