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genomicper

Circular Genomic Permutation using Genome Wide Association p-Values

v1.8 · Feb 23, 2026 · GPL-2

Description

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) <doi:10.1534/g3.112.002618> .

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OK 14 OK · 0 NOTE · 0 WARNING · 0 ERROR · 0 FAILURE Mar 10, 2026

Version History

5 tracked
new 1.8 Mar 10, 2026
updated 1.8 ← 1.7 diff Feb 22, 2026
updated 1.7 ← 1.6 diff May 7, 2021
updated 1.6 ← 1.3 diff Jul 4, 2016
new 1.3 May 28, 2012