The SNP ratio test: pathway analysis of genome-wide association datasets.

O'Dushlaine, Colm; Kenny, Elaine; Heron, Elizabeth A; Segurado, Ricardo; Gill, Michael; Morris, Derek W; Corvin, Aiden · Bioinformatics · 2009

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Abstract

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. https://sourceforge.net/projects/snpratiotest/

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