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FORGE : A tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions
[article]
2014
bioRxiv
pre-print
Genome wide association studies provide an unbiased discovery mechanism for numerous human diseases. However, a frustration in the analysis of GWAS is that the majority of variants discovered do not directly alter protein-coding genes. We have developed a simple analysis approach that detects the tissue-specific regulatory component of a set of GWAS SNPs by identifying enrichment of overlap with DNase I hotspots from diverse tissue samples. Functional element Overlap analysis of the Results of
doi:10.1101/013045
fatcat:j6yjrhwrvjfvddufnvkghgmwum