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🧬 VarXOmics¶
A free-access, versatile web platform for genomic data querying, analyzing, and variant prioritization with multi-omics insights¶
📍 Access VarXOmics: https://www.phenomeportal.org/varxomics
🌟 Key Features¶
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Comprehensive Variant Support
Analyze both small variants (SNVs, INDELs) and structural variants (SVs, CNVs) within a unified interface. -
Detailed Functional Annotation Provide comprehensive variant annotation, including HGVSc, HGVSp, consequences on proteins, clinical evidence, global allele frequency, prediction scores.
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Integrated Multi-Omics Evidence
Consolidates diverse omics datasets — eQTL, pQTL, GWAS, Mendelian Randomization (MR), and Pharmacogenomics (PGx) providing a holistic view of variant function and disease relevance. -
Functional and Network Interpretation
Supports gene set enrichment analysis (GO/KEGG) and interactive biological network visualization to uncover variant–gene–drug–phenotype relationships across omics layers. -
Variant Prioritization Systems
Implements an evidence-weighted scoring system integrating multi-omics and clinical data to highlight potentially disease-causing variants. -
Downloadable Visualizations and Data
All tables and plots are exportable (PNG, PDF, TSV) for seamless downstream analysis and reporting.
📘 Tutorials¶
The step-by-step tutorial video could be found here.
Each module of VarXOmics is documented with explicit Markdown guides:
| Module | Description | Tutorial |
|---|---|---|
| Single Variant Query | Query and annotate individual SNPs or INDELs. | View Tutorial › |
| CNV/SV Query | Annotate and visualize structural variants (CNVs, SVs). | View Tutorial › |
| Gene Query | Explore clinical and omics evidence for a given gene. | View Tutorial › |
| Multi-Variant Analysis | Upload and filter VCF files for cohort-wide analysis. | View Tutorial › |
| Multi SV/CNV Analysis | Visualize and interpret multi-sample CNV/SV datasets. | View Tutorial › |