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ShAn: An easy-to-use tool for interactive and integrated variant annotation

MOTIVATION: Annotation of large amounts of generated sequencing data is a demanding task. Most of the currently available robust annotation tools, like ANNOVAR, are command-line based tools which require a certain degree of programming skills. User-friendly tools for variant annotation of sequencing...

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Autores principales: Rathinakannan, Venkat Subramaniam, Schukov, Hannu-Pekka, Heron, Samuel, Schleutker, Johanna, Sipeky, Csilla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7340278/
https://www.ncbi.nlm.nih.gov/pubmed/32634151
http://dx.doi.org/10.1371/journal.pone.0235669
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author Rathinakannan, Venkat Subramaniam
Schukov, Hannu-Pekka
Heron, Samuel
Schleutker, Johanna
Sipeky, Csilla
author_facet Rathinakannan, Venkat Subramaniam
Schukov, Hannu-Pekka
Heron, Samuel
Schleutker, Johanna
Sipeky, Csilla
author_sort Rathinakannan, Venkat Subramaniam
collection PubMed
description MOTIVATION: Annotation of large amounts of generated sequencing data is a demanding task. Most of the currently available robust annotation tools, like ANNOVAR, are command-line based tools which require a certain degree of programming skills. User-friendly tools for variant annotation of sequencing data with graphical interface are under-represented. RESULTS: We have developed an interactive application, which harnesses the easy usability of R Shiny and combines it with the versatile annotation features of ANNOVAR. This application is easy to use and gives comprehensive annotations for user supplied vcf files using multiples databases. The output table contains the list of variants and their corresponding annotation presented within the graphical interface. In addition, the annotation results are downloadable as text file.
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spelling pubmed-73402782020-07-16 ShAn: An easy-to-use tool for interactive and integrated variant annotation Rathinakannan, Venkat Subramaniam Schukov, Hannu-Pekka Heron, Samuel Schleutker, Johanna Sipeky, Csilla PLoS One Research Article MOTIVATION: Annotation of large amounts of generated sequencing data is a demanding task. Most of the currently available robust annotation tools, like ANNOVAR, are command-line based tools which require a certain degree of programming skills. User-friendly tools for variant annotation of sequencing data with graphical interface are under-represented. RESULTS: We have developed an interactive application, which harnesses the easy usability of R Shiny and combines it with the versatile annotation features of ANNOVAR. This application is easy to use and gives comprehensive annotations for user supplied vcf files using multiples databases. The output table contains the list of variants and their corresponding annotation presented within the graphical interface. In addition, the annotation results are downloadable as text file. Public Library of Science 2020-07-07 /pmc/articles/PMC7340278/ /pubmed/32634151 http://dx.doi.org/10.1371/journal.pone.0235669 Text en © 2020 Rathinakannan et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Rathinakannan, Venkat Subramaniam
Schukov, Hannu-Pekka
Heron, Samuel
Schleutker, Johanna
Sipeky, Csilla
ShAn: An easy-to-use tool for interactive and integrated variant annotation
title ShAn: An easy-to-use tool for interactive and integrated variant annotation
title_full ShAn: An easy-to-use tool for interactive and integrated variant annotation
title_fullStr ShAn: An easy-to-use tool for interactive and integrated variant annotation
title_full_unstemmed ShAn: An easy-to-use tool for interactive and integrated variant annotation
title_short ShAn: An easy-to-use tool for interactive and integrated variant annotation
title_sort shan: an easy-to-use tool for interactive and integrated variant annotation
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7340278/
https://www.ncbi.nlm.nih.gov/pubmed/32634151
http://dx.doi.org/10.1371/journal.pone.0235669
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