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Netværksbaseret variantkald×RNA-seq Differential Expression×
FagområdeBioinformatikBioinformatik
FamilieProcess / pipelineProcess / pipeline
Oprindelsesår2017–20182008–2010 (RNA-seq DE methodology established)
OphavspersonErik Garrison, Paten lab (UCSC); Hannes Eggertsson, deCODE GeneticsMultiple groups; foundational methods from Anders & Huber (DESeq, 2010), Robinson, McCarthy & Smyth (edgeR, 2010)
TypeComputational genomics pipelineQuantitative genomics pipeline
Oprindelig kildeGarrison, E., Sirén, J., Novak, A. M., Hickey, G., Eizenga, J. M., Dawson, E. T., Jones, W., Garg, S., Markello, C., Lin, M. F., Paten, B., & Durbin, R. (2018). Variation graph toolkit improves read mapping by representing genetic variation in the reference. Nature Biotechnology, 36(9), 875–879. 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 ↗
Aliassergraph-genome variant calling, variation graph genotyping, vg-based variant calling, pangenome variant callingRNA-seq DE analysis, transcriptomic differential expression, bulk RNA-seq DE, DEA
Relaterede66
ResuméNetwork-based (graph-genome) variant calling replaces the conventional single linear reference genome with a variation graph — a network in which nodes represent sequence segments and edges represent known alternative paths through the genome. Reads are mapped onto this graph, enabling detection of SNPs, indels, and structural variants with substantially lower reference bias than linear-reference pipelines. Key tools include the Variation Graph Toolkit (vg) and Graphtyper.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.
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ScholarGateSammenlign metoder: Network-based variant calling · RNA-seq Differential Expression. Hentet 2026-06-17 fra https://scholargate.app/da/compare