方法对比

	Single-cell RNA-seq analysis	单细胞变异检测
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	2009 (first scRNA-seq by Tang et al.); widely adopted 2015–2016	2016 (Monovar; foundational single-cell SNV calling)
提出者	Azim Surani, Barbara Treutlein, and the Regev/McCarroll groups (foundational droplet-based methods ~2015)	Hamim Zafar, Ken Chen, Nicholas Navin and colleagues
类型	High-throughput single-cell transcriptomic profiling pipeline	Computational genomics pipeline
开创性文献	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.	Zafar, H., Wang, Y., Nakhleh, L., Navin, N., & Chen, K. (2016). Monovar: single-nucleotide variant detection in single cells. Nature Methods, 13(6), 505–507.
别名	scRNA-seq, single-cell transcriptomics, scRNAseq analysis, single-cell gene expression profiling	scVariant calling, single-cell SNV calling, scDNA-seq variant detection, single-cell somatic mutation calling
相关	5	1
摘要	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.	Single-cell variant calling is a bioinformatics pipeline that identifies DNA sequence variants — single-nucleotide variants (SNVs), small insertions and deletions, and copy-number alterations — within individual cells rather than across a bulk tissue mixture. By resolving the mutational landscape cell by cell, it reveals intra-tumoral heterogeneity, clonal architecture, and somatic mutation patterns that bulk sequencing obscures. The approach is central to cancer genomics, developmental biology, and any study where cell-to-cell genetic diversity is the primary question.