方法对比
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| 时间序列拷贝数变异分析× | 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≠ | 2010s–present | 1998–2006 |
| 提出者≠ | Developed from foundational CNV methods (Olshen et al. 2004; Ding et al. 2010) extended to longitudinal tumor genomics frameworks | Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map) |
| 类型≠ | Computational genomics pipeline | Genomic structural variant detection pipeline |
| 开创性文献≠ | Dentro, S. C., et al. (2021). Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes. Cell, 184(8), 2239-2254. link ↗ | Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454. DOI ↗ |
| 别名 | longitudinal CNV analysis, temporal copy number analysis, time-series CNV profiling, serial CNV analysis | CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis |
| 相关≠ | 5 | 6 |
| 摘要≠ | Time-series copy number variation (CNV) analysis is a computational genomics pipeline that characterizes chromosomal gains and losses across multiple sequential samples from the same individual or tumor. By comparing copy number profiles at successive time points — such as diagnosis, mid-treatment, relapse — it reconstructs the clonal dynamics and evolutionary trajectories driving genome instability, enabling researchers to track how sub-populations expand, contract, or acquire new aberrations over time. | Copy number variation (CNV) analysis is a genomic pipeline for detecting regions where individuals carry fewer or more copies of a DNA segment than the reference genome. CNVs span kilobases to megabases and are a major class of structural variation implicated in cancer, neurodevelopmental disorders, and population diversity. The pipeline typically processes SNP array intensities or read-depth signals from whole-genome sequencing, applies segmentation algorithms, calls gain and loss events, and annotates them against gene and clinical databases. |
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