RT Journal Article
SR Electronic
T1 Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic Regions
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 077990
DO 10.1101/077990
A1 Musaddeque Ahmed
A1 Richard C. Sallari
A1 Haiyang Guo
A1 Jason H. Moore
A1 Housheng Hansen He
A1 Mathieu Lupien
YR 2016
UL http://biorxiv.org/content/early/2016/09/28/077990.abstract
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