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Variant Set Enrichment: an R package to identify disease-associated functional genomic regions
Musaddeque Ahmed1,2, Richard C Sallari3, Haiyang Guo1,2
1Princess Margaret Cancer Centre, University Health Network, Toronto, ON Canada.
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.
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