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Tytuł:
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AVIA 3.0: interactive portal for genomic variant and sample level analysis.
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Autorzy:
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Reardon HV; Advanced Biomedical Computational Science, Biomedical Informatics & Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Che A; Advanced Biomedical Computational Science, Biomedical Informatics & Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Luke BT; Advanced Biomedical Computational Science, Biomedical Informatics & Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Ravichandran S; Advanced Biomedical Computational Science, Biomedical Informatics & Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Collins JR; Advanced Biomedical Computational Science, Biomedical Informatics & Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
Mudunuri US; Advanced Biomedical Computational Science, Biomedical Informatics & Data Science, Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA.
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Źródło:
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Bioinformatics (Oxford, England) [Bioinformatics] 2021 Aug 25; Vol. 37 (16), pp. 2467-2469.
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Typ publikacji:
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Journal Article; Research Support, N.I.H., Extramural
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Język:
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English
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Imprint Name(s):
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Original Publication: Oxford : Oxford University Press, c1998-
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MeSH Terms:
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Databases, Genetic*
Genetic Variation*
Data Management ; Genome ; Genomics ; Humans ; Internet ; Software
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References:
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Bioinformatics. 2015 Aug 15;31(16):2748-50. (PMID: 25861966)
Bioinformatics. 2014 Apr 1;30(7):1013-4. (PMID: 24215028)
J Clin Transl Sci. 2017 Dec;1(6):381-386. (PMID: 29707261)
Nucleic Acids Res. 2007 Jul;35(Web Server issue):W169-75. (PMID: 17576678)
Nature. 2013 Aug 22;500(7463):415-21. (PMID: 23945592)
Hum Genet. 2015 Aug;134(8):851-64. (PMID: 26001532)
Bioinformatics. 2018 Dec 1;34(23):4127-4128. (PMID: 29931246)
Bioinformatics. 2013 Jul 15;29(14):1830-1. (PMID: 23740750)
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Grant Information:
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HHSN261201800001C United States CA NCI NIH HHS; 75N91019D00024 United States NH NIH HHS
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Entry Date(s):
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Date Created: 20201208 Date Completed: 20210920 Latest Revision: 20210920
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Update Code:
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20240104
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PubMed Central ID:
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PMC8388034
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DOI:
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10.1093/bioinformatics/btaa994
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PMID:
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33289511
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Summary: 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.
Availabilityand Implementation: AVIA is accessible online at https://avia-abcc.ncifcrf.gov.
(Published by Oxford University Press 2020. This work is written by (a) US Government employee(s) and is in the public domain in the US.)
