Compara mètodes

	GWAS de cèl·lula única	Anàlisi eQTL
Camp	Bioinformàtica	Bioinformàtica
Família	Process / pipeline	Process / pipeline
Any d'origen	2019–2022 (rapid emergence with large-scale scRNA-seq atlases)	2001 (term coined); widely adopted after 2005
Autor original	Multiple groups (Price lab, De Jager lab, others); scDRS framework by Zhang et al. 2022	Ritsert C. Jansen & Jan-Peter Nap
Tipus	Integrative genomic analysis pipeline	Association mapping method
Font seminal	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.
Àlies	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
Relacionats	6	6
Resum	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.