ShAn: An easy-to-use tool for interactive and integrated variant annotation.
Journal
PloS one
ISSN: 1932-6203
Titre abrégé: PLoS One
Pays: United States
ID NLM: 101285081
Informations de publication
Date de publication:
2020
2020
Historique:
received:
30
10
2019
accepted:
22
06
2020
entrez:
8
7
2020
pubmed:
8
7
2020
medline:
15
9
2020
Statut:
epublish
Résumé
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. 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.
Identifiants
pubmed: 32634151
doi: 10.1371/journal.pone.0235669
pii: PONE-D-19-30265
pmc: PMC7340278
doi:
Types de publication
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Validation Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
e0235669Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
Références
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