IPEV: a web server for inferring pathogenic enhancers with variants

semanticscholar(2019)

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摘要
Abstract Background Enhancer has been recognized as an important driver whose genetic alterations contribute to disease progression. However, there is still no easy-to-use tools to identify pathogenic enhancers, allowing for deciphering functional influence of genetic variants on enhancer. Results We developed a user-friendly one-stop shop platform, named inferring pathogenic enhancer with variant (IPEV), only requiring variants as input, to quickly infer the pathogenic enhancers that harbor variants affecting their activities. Results of IPEV are explored in an interactive, user-friendly web environment, which is designed to highlight the most probable pathogenic enhancers and their target genes. Furthermore, IPEV provides intuitive visualizations of how a variant affects the corresponding enhancer activity by mediating TF binding changes. Conclusions IPEV is specially designed to prioritize the potentially pathogenic enhancers with genetic variants, and provides intuitive visualizations how a variant affects the corresponding enhancer activity by mediating which transcription factor binding changes. The use of IPEV does not require any specialized computer skills. We believe that IPEV will be useful in interpreting non-coding variants by the inferring pathogenic enhancers. It is freely available at http://biocc.hrbmu.edu.cn/IPEV/ or http://210.46.80.168/IPEV and supports recent versions of all major browsers.
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