The SNP ratio test: pathway analysis of genome-wide association datasets
The SNP ratio test: pathway analysis of genome-wide association datasets
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DOI：
10.1093/bioinformatics/btp448
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发表时间：
2009-10-15
期刊：
影响因子：
5.8
通讯作者：
Corvin, Aiden
中科院分区：
文献类型：
--
作者：
O'Dushlaine, Colm;Kenny, Elaine;Corvin, Aiden
我们提出了一个工具，评估丰富的显着协会从全基因组关联研究（GWAS）在通路的背景下。SNP比率检验（SRT）比较了作为途径的一部分的基因内的显著SNP与所有SNP的比例，并基于与其中病例/对照状态的分配已被随机化的数据集中的比率的比较来计算经验P值。我们使用KEGG数据库将SRT应用于帕金森病GWAS数据集，揭示了帕金森病和相关通路的重要性。
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.