title: Gene set-based analysis of polymorphisms: finding pathways or biological processes associated to traits in genome-wide association studies.
abstract: Genome-wide association studies have become a popular strategy to find associations of genes to traits of interest. Despite the high-resolution available today to carry out genotyping studies, the success of its application in real studies has been limited by the testing strategy used. As an alternative to brute force solutions involving the use of very large cohorts, we propose the use of the Gene Set Analysis (GSA), a different analysis strategy based on testing the association of modules of functionally related genes. We show here how the Gene Set-based Analysis of Polymorphisms (GeSBAP), which is a simple implementation of the GSA strategy for the analysis of genome-wide association studies, provides a significant increase in the power testing for this type of studies. GeSBAP is freely available at http://bioinfo.cipf.es/gesbap/.
authors.affiliation: Department of Bioinformatics and Genomics, CIPF, Valencia, Spain.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Medina
authors.forename: David
authors.initials: D
authors.lastname: Montaner
authors.forename: Nuria
authors.initials: N
authors.lastname: Bonifaci
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Pujana
authors.forename: José
authors.initials: J
authors.lastname: Carbonell
authors.forename: Joaquin
authors.initials: J
authors.lastname: Tarraga
authors.forename: Fatima
authors.initials: F
authors.lastname: Al-Shahrour
authors.forename: Joaquin
authors.initials: J
authors.lastname: Dopazo
mesh_terms: D001686:Biological Phenomena / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics; D005260:Female; D005796:Genes; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012984:Software; D014584:User-Computer Interface