Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic Regions

Abstract

SummaryGenetic predispositions to diseases populate the noncoding regions of the human genome. Delineating their functional basis can inform on the mechanisms contributing to disease development. However, this remains a challenge due to the poor characterization of the noncoding genome. Variant Set Enrichment (VSE) is a fast method to calculate the enrichment of a set of disease-associated variants across functionally annotated genomic regions, consequently highlighting the mechanisms important in the etiology of the disease studied.\n\nAvailability and ImplementationVSE is implemented as an R package and can easily be implemented in any system with R. See supplementary information for details.\n\nContacthansenhe@uhnresearch.ca; mlupien@uhnresearch.ca