User friendly program written in python and using bedtools to test for enrichment of GWAS SNPs in genomic annotation datasets. A specific feature is it tests for enrichment by locus not by individual SNPs. The user supplies 3 types of files. The first two files are a list of target SNPs and a list of background SNPs. To make the program user friendly the input format is simply the raw output from the popular haploreg program. Simply cut and paste that output into a text file. The genomic annotations are then supplied as bed files. The program will go through a directory of bed files e.g. all of the encode ChIP-seq datasets. Enrichment is checked against random samples from all the SNPs.
The output is a tab delimited text file with the number of target loci hit, the mean number of background loci hit, the fold enrichment and a P value derived from the number of background permutations that hit as many or more loci as the test SNPs, divided by the number of permutations.
The friendly GWAS SNP enrichment tool
Tests for enrichment of GWAS SNPs in epigenetic datasets
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