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| Analyse af kopitalvarians× | RNA-seq Differential Expression× | |
|---|---|---|
| Fagområde | Bioinformatik | Bioinformatik |
| Familie | Process / pipeline | Process / pipeline |
| Oprindelsesår≠ | 1998–2006 | 2008–2010 (RNA-seq DE methodology established) |
| Ophavsperson≠ | Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map) | Multiple groups; foundational methods from Anders & Huber (DESeq, 2010), Robinson, McCarthy & Smyth (edgeR, 2010) |
| Type≠ | Genomic structural variant detection pipeline | Quantitative genomics pipeline |
| Oprindelig kilde≠ | 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 ↗ | Love, M. I., Huber, W., & Anders, S. (2014). Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biology, 15(12), 550. DOI ↗ |
| Aliasser | CNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis | RNA-seq DE analysis, transcriptomic differential expression, bulk RNA-seq DE, DEA |
| Relaterede | 6 | 6 |
| Resumé≠ | 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. | RNA-seq differential expression (DE) analysis identifies genes whose transcript abundance differs significantly between two or more biological conditions — for example, treated versus control, or diseased versus healthy tissue. Starting from raw sequencing reads, the pipeline moves through alignment, count-based normalization, statistical modeling of count dispersion, hypothesis testing, and multiple-testing correction to produce a ranked list of differentially expressed genes accompanied by fold-change estimates and adjusted p-values. |
| ScholarGateDatasæt ↗ |
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