TY - JOUR T1 - Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic Regions JF - bioRxiv DO - 10.1101/077990 SP - 077990 AU - Musaddeque Ahmed AU - Richard C. Sallari AU - Haiyang Guo AU - Jason H. Moore AU - Housheng Hansen He AU - Mathieu Lupien Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/09/28/077990.abstract N2 - 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 ER -