VariantAlert:一个基于网络的工具,用于通知遗传变异注释的更新。

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC ACS Applied Electronic Materials Pub Date : 2022-12-01 DOI:10.1002/humu.24495
Rossano Atzeni, Matteo Massidda, Giorgio Fotia, Paolo Uva
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引用次数: 1

摘要

基于更新注释的变体重新解释是研究实验室日常工作的一部分:关于特定变体收集的数据越多,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,这是一个基于网络的工具,可以帮助研究人员和临床医生不断了解从多个来源提取的变体注释的变化。VariantAlert使用通过应用程序编程接口访问的外部资源提供变体的每日重新注释,例如MyVariant.info,它反过来提供到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异列表。如果由于底层资源的升级而检测到变体注释的变化(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),则通过电子邮件通知用户,并将更新的注释存储在网站上。VariantAlert可在https://github.com/next-crs4/VariantAlert免费获得。由于使用了Docker平台,安装和部署都很容易。Makefile允许您轻松地引导VariantAlert。VariantAlert也可以在https://variant-alert.crs4.it/上提供web服务。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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VariantAlert: A web-based tool to notify updates in genetic variant annotations.

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/.

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CiteScore
7.20
自引率
4.30%
发文量
567
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