{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,8]],"date-time":"2024-08-08T00:53:46Z","timestamp":1723078426980},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Motivation:\u2002The plethora of information that emerges from large-scale genome characterization studies has triggered the development of computational frameworks and tools for efficient analysis, interpretation and visualization of genomic data. Functional annotation of genomic variations and the ability to visualize the data in the context of whole genome and\/or multiple genomes has remained a challenging task. We have developed an interactive web-based tool, AVIA (Annotation, Visualization and Impact Analysis), to explore and interpret large sets of genomic variations (single nucleotide variations and insertion\/deletions) and to help guide and summarize genomic experiments. The annotation, summary plots and tables are packaged and can be downloaded by the user from the email link provided.<\/jats:p>\n               <jats:p>Availability and implementation:\u2002 \u00a0http:\/\/avia.abcc.ncifcrf.gov.<\/jats:p>\n               <jats:p>Contact:\u2002 \u00a0vuonghm@mail.nih.gov<\/jats:p>\n               <jats:p>Supplementary information:\u2002 \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btt655","type":"journal-article","created":{"date-parts":[[2013,11,10]],"date-time":"2013-11-10T01:09:20Z","timestamp":1384045760000},"page":"1013-1014","source":"Crossref","is-referenced-by-count":5,"title":["AVIA: an interactive web-server for annotation, visualization and impact analysis of genomic variations"],"prefix":"10.1093","volume":"30","author":[{"given":"Hue","family":"Vuong","sequence":"first","affiliation":[{"name":"Advanced Biomedical Computing Center (ABCC), Information Systems Program, SAIC-Frederick Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M.","family":"Stephens","sequence":"additional","affiliation":[{"name":"Advanced Biomedical Computing Center (ABCC), Information Systems Program, SAIC-Frederick Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Volfovsky","sequence":"additional","affiliation":[{"name":"Advanced Biomedical Computing Center (ABCC), Information Systems Program, SAIC-Frederick Inc., Frederick National Laboratory for Cancer Research, Frederick, MD 21702, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,11,9]]},"reference":[{"key":"2023012710445129700_btt655-B14","doi-asserted-by":"crossref","DOI":"10.1002\/0471142905.hg0720s76","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","author":"Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet."},{"key":"2023012710445129700_btt655-B1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmedgenet-2012-100918","article-title":"wANNOVAR: annotating genetic variants for personal genomes via the web","volume":"49","author":"Chang","year":"2012","journal-title":"J. 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