Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Ireland.
Bioinformatics. 2009 Oct 15;25(20):2762-3. doi: 10.1093/bioinformatics/btp448. Epub 2009 Jul 20.
We present a tool that assesses the enrichment of significant associations from genome-wide association studies (GWAS) in a pathway context. The SNP ratio test (SRT) compares the proportion of significant to all SNPs within genes that are part of a pathway and computes an empirical P-value based on comparisons to ratios in datasets where the assignment of case/control status has been randomized. We applied the SRT to a Parkinson's disease GWAS dataset, using the KEGG database, revealing significance for Parkinson's disease and related pathways.
我们提出了一种工具，用于评估在通路背景下全基因组关联研究（GWAS）中显著关联的富集程度。SNP 比率检验（SRT）比较了通路中基因内显著 SNP 与所有 SNP 的比例，并基于与病例/对照状态分配随机化的数据集的比值进行比较来计算经验 P 值。我们使用 KEGG 数据库将 SRT 应用于帕金森病 GWAS 数据集，结果显示帕金森病和相关通路具有显著性。
