Usage

Basic Usage

After starting the application, navigate to http://localhost:5173 in your web browser.

Search Interface

The application provides two search modes:

Gene Search

1. Enter a gene symbol (e.g., PKD1, COL4A5)
2. Select the gene from autocomplete suggestions
3. View all variants associated with the gene

Variant Search

1. Enter a variant identifier in one of these formats:
   • HGVS: NM_001009944.3:c.11798G>A
   • Genomic: chr16:2138253:G:A
   • rsID: rs121913240
2. View detailed scoring and annotations

Understanding Scores

The Nephro Candidate Score (NCS) evaluates variants based on:

• CADD Score: Combined Annotation Dependent Depletion
• Allele Frequency: Population frequency from gnomAD
• Clinical Significance: ClinVar annotations
• Gene Constraint: pLI and LOEUF scores
• Inheritance Pattern: Dominant/recessive considerations

Export Options

Results can be exported in multiple formats:

• CSV/TSV: For spreadsheet applications
• JSON: For programmatic processing
• VCF: For genomic analysis pipelines

Advanced Features

• Batch Processing: Process up to 200 variants at once (see Batch Processing)
• API Caching: Toggle caching in settings for faster repeated queries
• Theme Toggle: Switch between light and dark modes