Compara mètodes

	Anàlisi de la variació del nombre de còpies en cèl·lules individuals	GWAS de cèl·lula única
Camp	Bioinformàtica	Bioinformàtica
Família	Process / pipeline	Process / pipeline
Any d'origen	2011–2015	2019–2022 (rapid emergence with large-scale scRNA-seq atlases)
Autor original	Navin et al. (single-cell sequencing for CNV); Garvin et al. (Ginkgo tool, 2015)	Multiple groups (Price lab, De Jager lab, others); scDRS framework by Zhang et al. 2022
Tipus	Computational genomics pipeline	Integrative genomic analysis pipeline
Font seminal	Garvin, T., Aboukhalil, R., Kendall, J., Baslan, T., Atwal, G. S., Hicks, J., Wigler, M., & Schatz, M. C. (2015). Interactive analysis and assessment of single-cell copy-number variations. Nature Methods, 12(11), 1058–1060.	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.
Àlies	scCNV analysis, single-cell CNV, scCNA analysis, single-cell copy number aberration analysis	sc-GWAS, single-cell GWAS integration, cell-type-specific GWAS, single-cell genetic association analysis
Relacionats	6	6
Resum	Single-cell copy number variation (scCNV) analysis detects gains and losses of genomic segments within individual cells, enabling researchers to resolve intratumor heterogeneity, reconstruct clonal evolution, and distinguish malignant from normal cells at single-cell resolution. It can be applied to single-cell whole-genome sequencing data directly or inferred from read-depth signals in scRNA-seq or scATAC-seq experiments.	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.