Variant Set Enrichment: an R package to identify disease-associated functional genomic regions

Variant Set Enrichment (VSE) is an R package 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.

Ahmed M, Sallari RC, Guo H, Moore JH, He HH, Lupien M. Variant Set Enrichment: an R package to identify disease-associated functional genomic regions. BioData Min. 2017 Feb 22;10:9. [PDF]