Genetics Interpretation Validation

Validate genetic variant interpretations by cross-referencing with SNPedia and clinical databases.

When to Use

• Interpreting SNPs NOT in reference files
• Verifying allele orientation (which genotype is risk allele)
• Cross-checking genetic risk assessments
• Investigating novel or rare variants
• Confirming Gilbert syndrome, pharmacogenomics, or health risk interpretations

Workflow

1. Receive SNP rsID and observed genotype
2. Fetch SNPedia page for that SNP
3. Extract genotype interpretations and clinical significance
4. Compare observed genotype to reported risk/protective genotypes
5. Return validated interpretation with confidence level