Compară metode
Examinează metodele selectate una lângă alta; rândurile care diferă sunt evidențiate.
| GWAS monocelular× | Analiza eQTL cu celulă unică× | |
|---|---|---|
| Domeniu | Bioinformatică | Bioinformatică |
| Familie | Process / pipeline | Process / pipeline |
| Anul apariției≠ | 2019–2022 (rapid emergence with large-scale scRNA-seq atlases) | 2020 |
| Autorul original≠ | Multiple groups (Price lab, De Jager lab, others); scDRS framework by Zhang et al. 2022 | Cuomo et al.; Kim-Hellmuth et al. (pioneering sc-eQTL frameworks, 2020) |
| Tip≠ | Integrative genomic analysis pipeline | Statistical genomics pipeline |
| Sursa seminală≠ | 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. link ↗ | Cuomo, A. S. E., et al. (2020). Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression. Nature Communications, 11(1), 810. link ↗ |
| Denumiri alternative | sc-GWAS, single-cell GWAS integration, cell-type-specific GWAS, single-cell genetic association analysis | sc-eQTL analysis, single-cell eQTL mapping, scRNA-seq eQTL, cell-type-specific eQTL |
| Înrudite | 6 | 6 |
| Rezumat≠ | 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. | Single-cell eQTL analysis identifies genetic variants (eQTLs) that regulate gene expression in a cell-type-specific manner by jointly analysing single-cell RNA-seq profiles and donor genotype data. Unlike bulk eQTL methods, it resolves regulatory effects that are diluted or masked when cell types are mixed, enabling discovery of variants whose effects are confined to particular cell states or developmental stages. |
| ScholarGateSet de date ↗ |
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