方法对比

	贝叶斯eQTL分析	全基因组关联研究 (GWAS)
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	2000s–2010s	2005–2007
提出者	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)
类型	Probabilistic genomic association method	Observational genomic association study
开创性文献	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.
别名	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
相关	6	6
摘要	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.