AVIA 3.0: interactive portal for genomic variant and sample level analysis.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 33289511.
- Also identified by DOI 10.1093/bioinformatics/btaa994 and PMC identifier 8388034.
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Abstract
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.
Medical subject headings
- Databases, Genetic
- Genetic Variation