PT  - JOURNAL ARTICLE
AU  - Musaddeque Ahmed
AU  - Richard C. Sallari
AU  - Haiyang Guo
AU  - Jason H. Moore
AU  - Housheng Hansen He
AU  - Mathieu Lupien
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