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| ベイズeQTL解析× | ゲノムワイド関連解析 (GWAS)× | |
|---|---|---|
| 分野 | バイオインフォマティクス | バイオインフォマティクス |
| 系統 | Process / pipeline | Process / pipeline |
| 提唱年≠ | 2000s–2010s | 2005–2007 |
| 提唱者≠ | Matthew Stephens, David J. Balding (Bayesian framework for genetic association); extended by multiple groups for eQTL context | Klein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007) |
| 種類≠ | Probabilistic genomic association method | Observational genomic association study |
| 原典≠ | Stephens, M., & Balding, D. J. (2009). Bayesian statistical methods for genetic association studies. Nature Reviews Genetics, 10(10), 681–690. DOI ↗ | 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 ↗ |
| 別名 | Bayesian eQTL mapping, probabilistic eQTL analysis, Bayesian QTL mapping for gene expression, eQTL fine-mapping | GWAS, genome-wide association analysis, whole-genome association study, WGAS |
| 関連 | 6 | 6 |
| 概要≠ | Bayesian eQTL analysis identifies genetic variants (eQTLs) that regulate gene expression by combining genotype and RNA-seq data within a probabilistic framework. Unlike frequentist approaches that rely on p-value thresholds, the Bayesian formulation produces posterior probabilities of association, enabling principled fine-mapping of causal variants and coherent uncertainty quantification across thousands of gene-SNP pairs simultaneously. | 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. |
| ScholarGateデータセット ↗ |
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