Learning to Fuse LLMs with Ontology Rankers for Rare-Disease Diagnosis

The paper proposes a behavior-based fusion model that combines large language models (LLMs) with ontology rankers to improve rare-disease diagnosis. By examining ranked lists, agreement, and ontology support, the model learns how much to rely on each system per case, achieving significant recall gains on Phenopacket Store and RAMEDIS benchmarks. Importantly, the fused diagnoses retain candidate-level ontology evidence for inspection.

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• llms
• benchmarks