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bioRxiv · 10.1101/2021.04.17.440295

RegVar: Tissue-specific Prioritization of Noncoding Regulatory Variants

Lu, H.·Ma, L.·Li, L.·Quan, C.·Lu, Y.·Zhou, G.·Zhang, C.
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Abstract

Noncoding genomic variants constitute the majority of trait-associated genome variations; however, identification of functional noncoding variants is still a challenge in human genetics, and a method systematically assessing the impact of regulatory variants on gene expression and linking them to potential target genes is still lacking. Here we introduce a deep neural network (DNN)-based computational framework, RegVar, that can accurately predict the tissue-specific impact of noncoding regulatory variants on target genes. We show that, by robustly learning the genomic characteristics of massive variant-gene expression associations in a variety of human tissues, RegVar vastly surpasses all current noncoding variants prioritization methods in predicting regulatory variants under different circumstances. The unique features of RegVar make it an excellent framework for assessing the regulatory impact of any variant on its putative target genes in a variety of tissues. RegVar is available as a webserver at http://regvar.cbportal.org/.

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Lu, H., Ma, L., Li, L., Quan, C., Lu, Y., Zhou, G., Zhang, C.. 2021-04-19. RegVar: Tissue-specific Prioritization of Noncoding Regulatory Variants. https://doi.org/10.1101/2021.04.17.440295

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