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

Area of Science:

• Bioinformatics
• Genomics
• Computational Biology

Background:

• Analyzing large sequencing datasets requires specialized tools.
• Current variant annotation software, such as ANNOVAR, often relies on command-line interfaces, demanding programming expertise.
• There is a need for accessible, graphical tools for variant annotation.

Purpose of the Study:

• To develop an interactive, user-friendly application for variant annotation of sequencing data.
• To combine the analytical power of ANNOVAR with the intuitive interface of R Shiny.
• To provide comprehensive annotations for variant data in an accessible format.

Main Methods:

• Development of an interactive application using R Shiny.
• Integration of ANNOVAR's annotation capabilities within the R Shiny framework.
• Processing of user-supplied VCF files for variant annotation.

Main Results:

• A new interactive application for variant annotation has been successfully developed.
• The application provides comprehensive variant annotations from multiple databases.
• Annotation results are displayed within a graphical interface and are downloadable as text files.

Conclusions:

• The developed application simplifies variant annotation for sequencing data.
• It addresses the under-representation of user-friendly, GUI-based annotation tools.
• This tool enhances accessibility for researchers without extensive programming skills.