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| Genomdækkende associationsstudie (GWAS)× | eQTL-analyse× | |
|---|---|---|
| Fagområde | Bioinformatik | Bioinformatik |
| Familie | Process / pipeline | Process / pipeline |
| Oprindelsesår≠ | 2005–2007 | 2001 (term coined); widely adopted after 2005 |
| Ophavsperson≠ | Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007) | Ritsert C. Jansen & Jan-Peter Nap |
| Type≠ | Observational genomic association study | Association mapping method |
| Oprindelig kilde≠ | 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 ↗ | Jansen, R. C., & Nap, J.-P. (2001). Genetical genomics: the added value from segregation. Trends in Genetics, 17(7), 388–391. DOI ↗ |
| Aliasser | GWAS, genome-wide association analysis, whole-genome association study, WGAS | eQTL mapping, expression QTL analysis, transcriptomic QTL analysis, eQTL study |
| Relaterede | 6 | 6 |
| Resumé≠ | 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. | eQTL analysis identifies genomic loci (variants, typically SNPs) whose genotype statistically associates with variation in the expression level of one or more genes. By jointly profiling DNA-level variation and RNA-level expression in the same individuals, eQTL studies decode the regulatory grammar of the genome — revealing which variants control how much a gene is transcribed, in which tissues, and under what conditions. |
| ScholarGateDatasæt ↗ |
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