BIOINFORMATICS APPLICATIONS NOTE
BIOINFORMATICS APPLICATIONS NOTE
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Systems Biology
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Systems Biology
摘要：我们提出了一种工具，该工具在途径环境中评估了全基因组关联研究（GWAS）的显着关联的富集。并根据数据/控制状态分配的数据集的比例来计算经验P值。
Summary: 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.