Advanced Biomedical Computational Science, Biomedical Informatics & Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Bioinformatics. 2021 Aug 25;37(16):2467-2469. doi: 10.1093/bioinformatics/btaa994.
The Annotation, Visualization and Impact Analysis (AVIA) is a web application combining multiple features to annotate and visualize genomic variant data. Users can investigate functional significance of their genetic alterations across samples, genes and pathways. Version 3.0 of AVIA offers filtering options through interactive charts and by linking disease relevant data sources. Newly incorporated services include gene, variant and sample level reporting, literature and functional correlations among impacted genes, comparative analysis across samples and against data sources such as TCGA and ClinVar, and cohort building. Sample and data management is now feasible through the application, which allows greater flexibility with sharing, reannotating and organizing data. Most importantly, AVIA's utility stems from its convenience for allowing users to upload and explore results without any a priori knowledge or the need to install, update and maintain software or databases. Together, these enhancements strengthen AVIA as a comprehensive, user-driven variant analysis portal.
AVIA is accessible online at https://avia-abcc.ncifcrf.gov.
Annotation、Visualization and Impact Analysis（AVIA）是一个结合了多种功能的网络应用程序，用于注释和可视化基因组变体数据。用户可以在样本、基因和途径中研究其遗传改变的功能意义。AVIA 的 3.0 版本通过交互式图表和链接疾病相关数据源提供过滤选项。新纳入的服务包括基因、变体和样本水平报告，受影响基因之间的文献和功能相关性，以及针对 TCGA 和 ClinVar 等数据源的样本间比较分析，以及队列构建。通过该应用程序现在可以实现样本和数据管理，从而在共享、重新注释和组织数据方面提供更大的灵活性。最重要的是，AVIA 的实用性在于它允许用户上传和探索结果，而无需事先了解或需要安装、更新和维护软件或数据库。总之，这些增强功能使 AVIA 成为一个全面的、用户驱动的变异分析门户。
AVIA 可在 https://avia-abcc.ncifcrf.gov 在线访问。
