方法对比

	贝叶斯拷贝数变异分析	单细胞拷贝数变异分析
领域	生物信息学	生物信息学
方法族	Process / pipeline	Process / pipeline
起源年份	2004–2007	2011–2015
提出者	Colella et al. (QuantiSNP); Fridlyand et al. (HMM-based Bayesian CNV)	Navin et al. (single-cell sequencing for CNV); Garvin et al. (Ginkgo tool, 2015)
类型	Probabilistic genomic analysis pipeline	Computational genomics pipeline
开创性文献	Colella, S., Yau, C., Taylor, J. M., Mirza, G., Butler, H., Clouston, P., Bassett, A. S., Seller, A., Holmes, C. C., & Ragoussis, J. (2007). QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Research, 35(6), 2013–2025.	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.
别名	Bayesian CNV analysis, Bayesian CNV calling, probabilistic CNV detection, Bayesian HMM-CNV	scCNV analysis, single-cell CNV, scCNA analysis, single-cell copy number aberration analysis
相关	6	6
摘要	Bayesian copy number variation (CNV) analysis is a probabilistic framework for detecting genomic segments where an individual's DNA copy count deviates from the diploid norm. By placing prior distributions over copy-number states and updating them with array CGH, SNP array, or sequencing read-depth evidence, the approach yields posterior probabilities for each copy-number state along the genome, providing statistically principled uncertainty quantification that frequentist segmentation methods lack.	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.