RevUP：一个在线评分系统，用于评估与罕见病相关的调控变异。
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
机构信息
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
出版信息
Bioinformatics. 2022 Apr 28;38(9):2664-2666. doi: 10.1093/bioinformatics/btac157.
SUMMARY
To address the difficulty in assessing the implication of regulatory variants in diseases, a scoring scheme previously published allows the calculation of the Regulatory Variant Evidence score (RVE-score). The score represents the accumulated evidence for a causative role of a regulatory variant in a disease. Regulatory Evidence for Variants Underlying Phenotypes was built to calculate the RVE-score of regulatory variants, based on the 24 criteria, with a hybrid approach combining information retrieved from public databases and user input.
AVAILABILITY AND IMPLEMENTATION
RevUP is freely available at http://www.revup-classifier.ca. The source code is available at https://github.com/wassermanlab/revup.
SUPPLEMENTARY INFORMATION
Supplementary data are available at Bioinformatics online.
摘要
为了解决评估疾病中调控变异影响的困难，我们之前发表了一种评分方案，允许计算调控变异证据评分（RVE-score）。该评分代表了调控变异在疾病中因果作用的累积证据。基于 24 条标准，我们构建了“调控变异在表型中证据”，以计算调控变异的 RVE-score，采用了一种结合公共数据库检索信息和用户输入的混合方法。
可及性和实现
RevUP 可免费在 http://www.revup-classifier.ca 获取。源代码可在 https://github.com/wassermanlab/revup 获取。
补充信息
补充数据可在“Bioinformatics”在线获取。
Zotero 插件