ShAn: An easy-to-use tool for interactive and integrated variant annotation.
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Where this comes from
- Record sourced from PubMed, PMID 32634151.
- Also identified by DOI 10.1371/journal.pone.0235669 and PMC identifier 7340278.
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Abstract
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.
Medical subject headings
- Molecular Sequence Annotation
- Software