query_gene
Identify genetic variants in a specific gene by cross-referencing ClinVar, GWAS, and AlphaMissense databases, then check patient DNA for those variants to investigate gene-related health implications.
Instructions
Find ALL known variants for a gene by cross-referencing ClinVar, GWAS, and AlphaMissense. Then checks which of those variants the patient actually carries. This is the best starting point for investigating a specific gene.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| gene | Yes | Gene symbol, e.g. 'BRCA1', 'CYP2D6' |