Abstract
Background The expanding availability of large-scale genomic data and the growing interest in uncovering gene-disease associations call for efficient tools to visualize and evaluate gene expression and genetic variation data.
Methodology Data collection involved filtering biomarkers related to multiple neurological diseases from the ClinGen database. We developed a comprehensive pipeline that was implemented as an interactive Shiny application and a standalone desktop application.
Results NeuroVar is a tool for visualizing genetic variation (single nucleotide polymorphisms and insertions/deletions) and gene expression profiles of biomarkers of neurological diseases.
Conclusion The tool provides a user-friendly graphical user interface to visualize genomic data and is freely accessible on the project’s GitHub repository (https://github.com/omicscodeathon/neurovar).
Competing Interest Statement
The authors have declared no competing interest.
Abbreviations
- SNP
- Single Nucleotide Polymorphism
- Indel
- Insertion Deletion
- CSV
- Comma Separated Values
- VCF
- ariant Call Format