方法对比

	机器学习辅助表观基因组关联研究 (ML-EWAS)	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	2010s (methodological consolidation ~2015–2020)	2005–2007
提出者	Teschendorff, Relton, and others in the epigenomics field	Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)
类型	Integrative omics analysis pipeline	Observational genomic association study
开创性文献	Teschendorff, A. E., & Relton, C. L. (2018). Statistical and integrative system-level analysis of DNA methylation data. Nature Reviews Genetics, 19(3), 129–147.	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	ML-EWAS, machine learning EWAS, ML-assisted EWAS, epigenome-wide association study with machine learning	GWAS, genome-wide association analysis, whole-genome association study, WGAS
相关	3	6
摘要	Machine learning-assisted EWAS integrates conventional epigenome-wide association testing with machine learning models to identify DNA methylation sites associated with a phenotype of interest. By combining the statistical rigour of EWAS with the pattern-recognition power of algorithms such as elastic net, random forest, or gradient boosting, this approach handles the extreme dimensionality of methylation arrays (450,000–850,000 CpG sites) more effectively than univariate testing alone, and can capture non-linear and interaction effects that standard linear models miss.	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.