Title: Variant Set Enrichment: an R package to identify disease-associated functional genomic regions.
Authors: Ahmed, Musaddeque; Sallari, Richard C; Guo, Haiyang; Moore, Jason H; He, Housheng Hansen; Lupien, Mathieu
Published In BioData Min, (2017)
Abstract: 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.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.VSE is implemented as an R package and can easily be implemented in any system with R.
PubMed ID: 28239419
MeSH Terms: No MeSH terms associated with this publication