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| Genomweite Assoziationsstudie (GWAS)× | RNA-seq Differential Expression× | |
|---|---|---|
| Fachgebiet | Bioinformatik | Bioinformatik |
| Familie | Process / pipeline | Process / pipeline |
| Entstehungsjahr≠ | 2005–2007 | 2008–2010 (RNA-seq DE methodology established) |
| Urheber≠ | Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007) | Multiple groups; foundational methods from Anders & Huber (DESeq, 2010), Robinson, McCarthy & Smyth (edgeR, 2010) |
| Typ≠ | Observational genomic association study | Quantitative genomics pipeline |
| Wegweisende Quelle≠ | Wellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678. link ↗ | 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 ↗ |
| Aliasnamen | GWAS, genome-wide association analysis, whole-genome association study, WGAS | RNA-seq DE analysis, transcriptomic differential expression, bulk RNA-seq DE, DEA |
| Verwandt | 6 | 6 |
| Zusammenfassung≠ | A genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition. | 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. |
| ScholarGateDatensatz ↗ |
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