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단일 세포 GWAS×단일 세포 RNA-seq 분석×
분야생물정보학생물정보학
계열Process / pipelineProcess / pipeline
기원 연도2019–2022 (rapid emergence with large-scale scRNA-seq atlases)2009 (first scRNA-seq by Tang et al.); widely adopted 2015–2016
창시자Multiple groups (Price lab, De Jager lab, others); scDRS framework by Zhang et al. 2022Azim Surani, Barbara Treutlein, and the Regev/McCarroll groups (foundational droplet-based methods ~2015)
유형Integrative genomic analysis pipelineHigh-throughput single-cell transcriptomic profiling pipeline
원전Zhang, 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 ↗Satija, R., Farrell, J. A., Gennert, D., Schier, A. F., & Regev, A. (2015). Spatial reconstruction of single-cell gene expression data. Nature Biotechnology, 33(5), 495–502. DOI ↗
별칭sc-GWAS, single-cell GWAS integration, cell-type-specific GWAS, single-cell genetic association analysisscRNA-seq, single-cell transcriptomics, scRNAseq analysis, single-cell gene expression profiling
관련65
요약Single-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 RNA sequencing (scRNA-seq) analysis characterises gene expression at the resolution of individual cells, enabling discovery of cell types, states, and transitions that are invisible in bulk transcriptomics. Starting from raw sequencing reads, the workflow produces a cell-by-gene count matrix and proceeds through quality control, normalisation, dimensionality reduction, unsupervised clustering, cell-type annotation, and a range of downstream analyses such as trajectory inference and differential expression between cell populations.
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ScholarGate방법 비교: Single-cell GWAS · Single-cell RNA-seq analysis. 2026-06-18에 다음에서 검색함: https://scholargate.app/ko/compare