title: SNP2GO: functional analysis of genome-wide association studies.
abstract: Genome-wide association studies (GWAS) are designed to identify the portion of single-nucleotide polymorphisms (SNPs) in genome sequences associated with a complex trait. Strategies based on the gene list enrichment concept are currently applied for the functional analysis of GWAS, according to which a significant overrepresentation of candidate genes associated with a biological pathway is used as a proxy to infer overrepresentation of candidate SNPs in the pathway. Here we show that such inference is not always valid and introduce the program SNP2GO, which implements a new method to properly test for the overrepresentation of candidate SNPs in biological pathways.
authors.affiliation: Center for Integrative Bioinformatics Vienna, Max F. Perutz Laboratories, University of Vienna and Medical University of Vienna, A-1030 Vienna, Austria.
authors.forename: David
authors.initials: D
authors.lastname: Szkiba
authors.forename: Martin
authors.initials: M
authors.lastname: Kapun
authors.forename: Arndt
authors.initials: A
authors.lastname: von Haeseler
authors.forename: Miguel
authors.initials: M
authors.lastname: Gallach
mesh_terms: D000818:Animals; D004331:Drosophila melanogaster / Q000235:genetics; D063990:Gene Ontology; D055106:Genome-Wide Association Study / Q000379:methods*; D023281:Genomics / Q000379:methods*; D006801:Humans; D020641:Polymorphism, Single Nucleotide
keywords: GWAS; Gene Ontology; SNP; linkage disequilibrium