Circular Genomic Permutation using Genome Wide Association p-Values

Circular genomic permutation approach uses genome wide association studies (GWAS) results to establish the significance of pathway/gene-set associations whilst accounting for genomic structure. All single nucleotide polymorphisms (SNPs) in the GWAS are placed in a 'circular genome' according to their location. Then the complete set of SNP association p-values are permuted by rotation with respect to the SNPs' genomic locations. Two testing frameworks are available: permutations at the gene level, and permutations at the SNP level. The permutation at the gene level uses Fisher's combination test to calculate a single gene p-value, followed by the hypergeometric test. The SNP count methodology maps each SNP to pathways/gene-sets and calculates the proportion of SNPs for the real and the permutated datasets above a pre-defined threshold. Genomicper requires a matrix of GWAS association p-values and SNPs annotation to genes. Pathways can be obtained from within the package or can be provided by the user. Cabrera et al (2012) .


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install.packages("genomicper")

1.8 by Claudia P Cabrera, 7 months ago


Browse source code at https://github.com/cran/genomicper


Authors: Claudia P Cabrera [aut, cre] , Pau Navarro [aut] , Chris S Haley [aut]


Documentation:   PDF Manual  


GPL-2 license


Imports stats, grDevices, utils, graphics


See at CRAN