prioritize_variants
Prioritizes genetic variants by matching patient HPO phenotype terms to rank variants most likely explaining symptoms. Supports inheritance filtering and result limits.
Instructions
Run Exomiser to prioritize patient variants by phenotype match. Provide HPO terms describing the patient's symptoms/conditions and Exomiser will rank which genetic variants most likely explain those symptoms. This is the gold-standard tool for rare disease variant prioritization. Requires Exomiser to be installed (npm run setup-exomiser). Returns nothing if Exomiser is not available — use other query tools instead.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| hpo_terms | Yes | HPO term IDs, e.g. ['HP:0001250', 'HP:0000486']. Get terms from query_hpo. | |
| inheritance | No | Inheritance mode filter: AD=autosomal dominant, AR=autosomal recessive, XL=X-linked, any=all modes | any |
| max_results | No | Maximum number of top-ranked genes to return |