MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering.

LLM agentic interface integrating 44 genomic databases via tool-augmented context engineering

MARRVEL-MCP is a tool-augmented agentic interface that enables LLMs to query 44 genomic databases for variant interpretation in Mendelian diseases. On 100 expert-curated standardized questions, a 20B model coupled with MARRVEL-MCP achieves 94% correct answers versus 41% without the system. The platform reduces cognitive burden on specialists and makes variant interpretation accessible to non-experts. Code is available open-source.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Context engineering via specialized tools rather than fine-tuning alone opens a pragmatic pathway: genomic databases evolve constantly, fine-tuned models age poorly, while an agentic interface remains current. Validation on 100 expert questions is promising but insufficient for clinical adoption without prospective evaluation on real cases.

Clinical impact: 3/3 · Evidence strength: 2/3 · Novelty: 2/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 9/10