Abstract
Summary Genetic 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.
Availability and Implementation VSE is implemented as an R package and can easily be implemented in any system with R. See supplementary information for details.
Contact hansenhe{at}uhnresearch.ca; mlupien{at}uhnresearch.ca
