Large Language Model Agents for Evidence Based Genetic Disease Severity Classification
An autonomous AI agent integrating Reasoning and Acting with Retrieval-Augmented Generation with Retrieval-Augmented Generation is developed to classify 10,211 Human Phenotype Ontology terms, enabling standardized panel design by providing reliable, automated classification supported by direct evidence.
Tohid Ghasemnejad, A. Argha, M. Grosser et al.
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