Details

Autor(en) / Beteiligte

• Rathinakannan, Venkat Subramaniam
• Schukov, Hannu-Pekka
• Heron, Samuel
• Schleutker, Johanna
• Sipeky, Csilla
• Galli, Alvaro

Titel

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

Ist Teil von

• PloS one, 2020-07, Vol.15 (7), p.e0235669-e0235669

Ort / Verlag

San Francisco: Public Library of Science

Erscheinungsjahr

2020

Link zum Volltext

Quelle

EZB Free E-Journals

Beschreibungen/Notizen

• 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.