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

American journal of human genetics - 4 Jun 2026

Everton Zachary, Botas Jorge, Kim Seon Young, Yao Lin, Liu Zhandong, Jeong Hyun-Hwan

Abstract excerpt

Variant interpretation in rare diseases requires navigating multiple genomic databases, each with strict input formats, while synthesizing heterogeneous evidence. This process creates significant barriers for non-experts and imposes a substantial cognitive burden on experienced specialists. These challenges are evident in tools such as model organism aggregated resources for rare variant exploration (MARRVEL),...

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Identifiers

PMID: 42167217
DOI: 10.1016/j.ajhg.2026.04.012
PMCID: PMC13277681

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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