Compara mètodes

	Anàlisi Bayesiana d'eQTL	Estudi d'associació a escala genòmica (GWAS)
Camp	Bioinformàtica	Bioinformàtica
Família	Process / pipeline	Process / pipeline
Any d'origen	2000s–2010s	2005–2007
Autor original	Matthew Stephens, David J. Balding (Bayesian framework for genetic association); extended by multiple groups for eQTL context	Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)
Tipus	Probabilistic genomic association method	Observational genomic association study
Font seminal	Stephens, M., & Balding, D. J. (2009). Bayesian statistical methods for genetic association studies. Nature Reviews Genetics, 10(10), 681–690.	Wellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678.
Àlies	Bayesian eQTL mapping, probabilistic eQTL analysis, Bayesian QTL mapping for gene expression, eQTL fine-mapping	GWAS, genome-wide association analysis, whole-genome association study, WGAS
Relacionats	6	6
Resum	Bayesian eQTL analysis identifies genetic variants (eQTLs) that regulate gene expression by combining genotype and RNA-seq data within a probabilistic framework. Unlike frequentist approaches that rely on p-value thresholds, the Bayesian formulation produces posterior probabilities of association, enabling principled fine-mapping of causal variants and coherent uncertainty quantification across thousands of gene-SNP pairs simultaneously.	A genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition.