Article

MARRVEL-MCP: A Context-Engineered Natural-Language Query-to-Response Interface for Mendelian Disease Discovery

2025-11-28

Abstract excerpt

<h4> A bstract </h4> Rare disease variant interpretation requires navigating multiple genomic databases with strict input formats and synthesizing heterogeneous evidence, creating barriers for non-experts and cognitive burdens even for specialists. MARRVEL exemplifies this challenge by requiring precise queries (e.g., HGVS notation) and returning complex, difficult-to-synthesize outputs. To address this input-o...

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Literature Corpus work: 6dc3cc56-4a45-5f45-968e-ff3c7946cc40
DOI: 10.1101/2025.11.26.690887

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