Title |
Variant Set Enrichment: an R package to identify disease-associated functional genomic regions
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Published in |
BioData Mining, February 2017
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DOI | 10.1186/s13040-017-0129-5 |
Pubmed ID | |
Authors |
Musaddeque Ahmed, Richard C. Sallari, Haiyang Guo, Jason H. Moore, Housheng Hansen He, Mathieu Lupien |
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. |
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