title: Variant Set Enrichment: an R package to identify disease-associated functional genomic regions.
abstract: BACKGROUND
  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. Here, we propose an R package that can pinpoint which genomic features are etiologically important based on the genetic predispositions.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  VSE is implemented as an R package and can easily be implemented in any system with R.
authors.affiliation: Princess Margaret Cancer Centre, University Health Network, Toronto, ON Canada.|Department of Medical Biophysics, University of Toronto, Toronto, ON Canada.
authors.forename: Musaddeque
authors.initials: M
authors.lastname: Ahmed
authors.affiliation: Massachusetts Institute of Technology (MIT), Cambridge, MA USA.
authors.forename: Richard C
authors.initials: RC
authors.lastname: Sallari
authors.affiliation: Princess Margaret Cancer Centre, University Health Network, Toronto, ON Canada.|Department of Medical Biophysics, University of Toronto, Toronto, ON Canada.
authors.forename: Haiyang
authors.initials: H
authors.lastname: Guo
authors.affiliation: Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA.
authors.forename: Jason H
authors.initials: JH
authors.lastname: Moore
authors.affiliation: Princess Margaret Cancer Centre, University Health Network, Toronto, ON Canada.|Department of Medical Biophysics, University of Toronto, Toronto, ON Canada.
authors.forename: Housheng Hansen
authors.initials: HH
authors.lastname: He
authors.affiliation: Princess Margaret Cancer Centre, University Health Network, Toronto, ON Canada.|Ontario Institute for Cancer Research, Toronto, ON Canada.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Lupien
keywords: AVS; Disease; Enrichment; GWAS; Noncoding region; Regulatory region