方法对比

	单细胞全基因组关联分析 (Single-cell GWAS)	eQTL分析
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	2019–2022 (rapid emergence with large-scale scRNA-seq atlases)	2001 (term coined); widely adopted after 2005
提出者	Multiple groups (Price lab, De Jager lab, others); scDRS framework by Zhang et al. 2022	Ritsert C. Jansen & Jan-Peter Nap
类型	Integrative genomic analysis pipeline	Association mapping method
开创性文献	Zhang, M. J., Hou, K., Dey, K. K., Sakaue, S., Jagadeesh, K. A., Weinand, K., ... & Price, A. L. (2022). Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data. Nature Genetics, 54(8), 1224-1234.	Jansen, R. C., & Nap, J.-P. (2001). Genetical genomics: the added value from segregation. Trends in Genetics, 17(7), 388–391.
别名	sc-GWAS, single-cell GWAS integration, cell-type-specific GWAS, single-cell genetic association analysis	eQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study
相关	6	6
摘要	Single-cell GWAS is an integrative bioinformatics pipeline that maps genome-wide association study (GWAS) signals onto single-cell transcriptomic landscapes to identify which cell types and individual cells carry disproportionate genetic risk for a disease or trait. By leveraging single-cell RNA-seq atlases alongside GWAS summary statistics, it moves beyond tissue-level associations to reveal the precise cellular contexts in which disease-associated genetic variants exert their effects.	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.