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bioRxiv · 10.1101/077990

Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic Regions

Musaddeque Ahmed·Richard C Sallari·Haiyang Guo·Jason H Moore·Housheng Hansen He·Mathieu Lupien
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Abstract

SummaryGenetic 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. Variant Set Enrichment (VSE) is a fast method 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.\n\nAvailability and ImplementationVSE is implemented as an R package and can easily be implemented in any system with R. See supplementary information for details.\n\nContacthansenhe@uhnresearch.ca; mlupien@uhnresearch.ca

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Musaddeque Ahmed, Richard C Sallari, Haiyang Guo, Jason H Moore, Housheng Hansen He, Mathieu Lupien. 2016-09-28. Variant Set Enrichment: An R package to Identify Dis-ease-Associated Functional Genomic Regions. https://doi.org/10.1101/077990

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