PT  - JOURNAL ARTICLE
AU  - Ahmed, Musaddeque
AU  - Sallari, Richard C.
AU  - Guo, Haiyang
AU  - Moore, Jason H.
AU  - He, Housheng Hansen
AU  - Lupien, Mathieu
TI  - Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic Regions
AID  - 10.1101/077990
DP  - 2016 Jan 01
TA  - bioRxiv
PG  - 077990
4099  - http://biorxiv.org/content/early/2016/09/28/077990.short
4100  - http://biorxiv.org/content/early/2016/09/28/077990.full
AB  - 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