VarXOmics: A Versatile Web Server for Genomic Data Querying, Analysis, and Variant Prioritization With Multi-omics...

Area of Science:

• Genomics
• Bioinformatics
• Computational Biology

Background:

• Existing web tools for large-scale genomics research have limited functionality.
• Streamlining variant analysis and gene prioritization remains a challenge.

Purpose of the Study:

• To develop VarXOmics, an end-to-end web server for variant and gene querying.
• To enable variant prioritization using multi-omics insights and interactive visualizations.
• To advance precision medicine through practical genomics data analysis.

Main Methods:

• Developed VarXOmics, a versatile web server.
• Integrated germline variant analysis and multi-omics data.
• Utilized gene set enrichment and network analysis for variant prioritization.
• Applied the tool to whole-genome sequencing data from a breast cancer patient.

Main Results:

• VarXOmics successfully prioritized BRCA2 c.3751dup as a likely pathogenic variant.
• Identified associations with cell cycle regulation, DNA repair, and type 2 diabetes.
• Demonstrated utility in uncovering molecular mechanisms of disease pathogenesis.

Conclusions:

• VarXOmics is a practical genomics platform for researchers and clinicians.
• The tool aids in identifying pathogenic variants and causal genes.
• VarXOmics supports clinical decision-making and therapeutic strategy development, advancing precision medicine.