To transform this from a simple look-up tool into a Research-Grade Bio-AI Agent, we will add context and evidence layers.
Goal: Allow researchers to verify variant classifications by reading the underlying literature.
- New Tool:
get_supporting_literature(variant_id) - Logic:
- Extract PMIDs (PubMed IDs) from the ClinVar record.
- Query NCBI PubMed API (
eutils/esummary.fcgi?db=pubmed). - Return titles, journals, and publication dates of supporting papers.
- Benefit: Provides the source of truth behind a "Pathogenic" label.
Goal: Provide biological context for variants in less familiar genes.
- New Tool:
get_gene_info(gene_symbol) - Logic:
- Search NCBI Gene DB (
db=gene). - Retrieve "Summary" (function), "MapLocation", and "Aliases".
- Search NCBI Gene DB (
- Benefit: Helps the agent understand the mechanism of action (e.g., "This gene encodes a tumor suppressor...").
Goal: Find variants associated with a specific disease.
- Enhancement: Update
search_clinvarto support explicit phenotype filtering. - Logic: Add logic to append
[dise]or[pdis]tags to the query term if the internal reasoning detects a disease name.
- Update
src/clinvar.pyto handledb=pubmedrequests. - Add parsing for
citation_listin ClinVar responses. - Create
get_supporting_literaturetool insrc/main.py.
- Create
src/gene.py(or add toclinvar.py) fordb=geneinteractions. - Create
get_gene_infotool insrc/main.py.
- Update
test_integration.pyto check for citations and gene info.