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VariantAlert: A web-based tool to notify updates in genetic variant annotations
Human Mutation ( IF 3.9 ) Pub Date : 2022-10-27 , DOI: 10.1002/humu.24495
Rossano Atzeni 1 , Matteo Massidda 1 , Giorgio Fotia 1 , Paolo Uva 2
Affiliation  

The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web-based tool to help researchers and clinicians to be constantly informed about changes in variant annotations extracted from multiple sources. VariantAlert provides daily re-annotation of variants using external resources accessed through application programming interface, such as MyVariant.info providing in turn links to gnomAD, catalogue of somatic mutations In cancer (COSMIC), ClinVar, CIViC, and many others. Researchers and clinicians can submit one or more lists of variants. If a change is detected for the annotation of a variant due to the upgrade of the underlying resource (e.g., change in gnomAD allele frequency, presence in COSMIC database, change in ClinVar classification) the user is notified by email and updated annotations are stored on the web-site. VariantAlert is freely available at https://github.com/next-crs4/VariantAlert. Installation and deployment are easy thanks to the use of the Docker platform. A Makefile allows you to easily bootstrap VariantAlert. VariantAlert is also available as a web service at https://variant-alert.crs4.it/.

中文翻译:

VariantAlert:一种基于网络的工具,用于通知遗传变异注释的更新

基于更新的注释重新解释变体是研究实验室日常工作的一部分:收集到的关于特定变体的数据越多,重新解释其分类的可能性就越高。为了支持这项任务,我们开发了 VariantAlert,这是一种基于网络的工具,可帮助研究人员和临床医生不断了解从多个来源提取的变异注释的变化。VariantAlert 使用通过应用程序编程接口访问的外部资源每天重新注释变体,例如 MyVariant.info 依次提供指向 gnomAD、癌症体细胞突变目录 (COSMIC)、ClinVar、CIViC 等的链接。研究人员和临床医生可以提交一个或多个变体列表。如果由于基础资源的升级(例如,gnomAD 等位基因频率的变化、COSMIC 数据库中的存在、ClinVar 分类的变化)而检测到变体注释的变化,则用户会收到电子邮件通知,并将更新的注释存储在网站。VariantAlert 可在 https://github.com/next-crs4/VariantAlert 免费获得。由于使用了 Docker 平台,安装和部署非常容易。Makefile 允许您轻松引导 VariantAlert。VariantAlert 也可以作为 Web 服务在 https://variant-alert.crs4.it/ 上获得。com/next-crs4/VariantAlert。由于使用了 Docker 平台,安装和部署非常容易。Makefile 允许您轻松引导 VariantAlert。VariantAlert 也可以作为 Web 服务在 https://variant-alert.crs4.it/ 上获得。com/next-crs4/VariantAlert。由于使用了 Docker 平台,安装和部署非常容易。Makefile 允许您轻松引导 VariantAlert。VariantAlert 也可以作为 Web 服务在 https://variant-alert.crs4.it/ 上获得。
更新日期:2022-10-27
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