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

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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. © The Author 2009. Published by Oxford University Press. All rights reserved.

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O’Dushlaine, C., Kenny, E., Heron, E. A., Segurado, R., Gill, M., Morris, D. W., & Corvin, A. (2009). The SNP ratio test: Pathway analysis of genome-wide association datasets. Bioinformatics, 25(20), 2762–2763. https://doi.org/10.1093/bioinformatics/btp448

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