Description
Hyun-Hwan Jeong, PhD, will present his AJHG paper on MARRVEL-MCP, an AI-powered computational tool that simplifies genetic variant interpretation using natural language queries. The platform integrates curated biomedical databases with large language models to accelerate rare disease diagnosis and improve accessibility for non-expert users.
Overview of Presentation:
- MARRVEL-MCP enables plain-language genetic variant interpretation using AI and biomedical databases.
- Tool improves diagnostic accuracy and efficiency for rare disease research workflows.
- Smaller AI models achieved major performance gains using curated biological context.
