RT Journal Article
SR Electronic
T1 NeuroVar: An Open-source Tool for Gene Expression and Variation Data Visualization for Biomarkers of Neurological Diseases
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2024.08.21.609056
DO 10.1101/2024.08.21.609056
A1 Ben Aribi, Hiba
A1 Abassi, Najla
A1 Awe, Olaitan I.
YR 2024
UL http://biorxiv.org/content/early/2024/08/22/2024.08.21.609056.abstract
AB 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 StatementThe authors have declared no competing interest.SNPSingle Nucleotide PolymorphismIndelInsertion DeletionCSVComma Separated ValuesVCFariant Call Format