首页|RegVar:Tissue-specific Prioritization of Non-coding Regulatory Variants

RegVar:Tissue-specific Prioritization of Non-coding Regulatory Variants

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Non-coding genomic variants constitute the majority of trait-associated genome varia-tions;however,the identification of functional non-coding variants is still a challenge in human genetics,and a method for systematically assessing the impact of regulatory variants on gene expression and linking these regulatory variants to potential target genes is still lacking.Here,we introduce a deep neural network(DNN)-based computational framework,RegVar,which can accurately predict the tissue-specific impact of non-coding 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 non-coding variant 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 vari-ant on its putative target genes in a variety of tissues.RegVar is available as a web server at https://regvar.omic.tech/.

Non-coding variantVariant prioritizationExpression regulationExpression quantitative trait locusDeep neural network

Hao Lu、Luyu Ma、Cheng Quan、Lei Li、Yiming Lu、Gangqiao Zhou、Chenggang Zhang

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Beijing Institute of Radiation Medicine,State Key Laboratory of Proteomics,Beijing 100850,China

General Program of the National Natural Science Foundation of ChinaBeijing Nova Program

3177139720180059

2023

基因组蛋白质组与生物信息学报(英文版)
中国科学院北京基因组研究所

基因组蛋白质组与生物信息学报(英文版)

CSTPCDCSCD
影响因子:0.495
ISSN:1672-0229
年,卷(期):2023.21(2)
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