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.
arXiv:2609.08174v1 Announce Type: new Abstract: We introduce OntologyBench, a tiered biomedical retrieval benchmark comprising 471,854 training and 125,744 evaluation query-document relevance pairs a...
arXiv:2606. 16149v1 Announce Type: new Abstract: Most medical AI systems improve by scaling additional machinery: more fine-tuning data, more agents, and/or larger retrieval databases.
arXiv:2608. 14683v1 Announce Type: new Abstract: Given a patient's clinical findings, a diagnostic system ranks possible diseases and must decide when to endorse its first prediction or defer it for review.
arXiv:2608.29582v1 Announce Type: cross Abstract: Current evaluations of large language models (LLMs) primarily focus on factual knowledge retrieval, overlooking the fundamental challenge of navigati...
arXiv:2607. 00147v1 Announce Type: new Abstract: Rare disease differential diagnosis is a critical yet arduous clinical task, requiring physicians to identify precise phenotypes from complex, unstructured patient symptoms and execute intricate reasoning within a vast search space.
arXiv:2607. 22555v1 Announce Type: new Abstract: Medical diagnosis is a multi-stage process: extract facts, consult knowledge, generate a differential analysis, and select the best diagnosis with explanations.
arXiv:2505. 14107v5 Announce Type: replace-cross Abstract: The emergence of groundbreaking large language models capable of performing complex reasoning tasks holds significant promise for addressing various scientific challenges, including those arising in complex clinical scenarios.
arXiv:2606. 07141v1 Announce Type: cross Abstract: Language models trained for clinical disease inference are trained on patient data, which may include sensitive and private information, and data owners may request the removal of their data from a trained model due to privacy or copyright concerns.
arXiv:2607. 24878v1 Announce Type: cross Abstract: Phenotype-driven diagnostic benchmarks usually report the rank of the reference disease, but they rarely reveal which plausible alternatives are ranked above it or what evidence a tool-using model examines before making its decision.
HPOQuest is a training‑free framework that improves rare‑disease diagnosis by actively acquiring additional phenotypes. Starting from a few observed patient traits, it maintains a probabilistic ranking of possible diseases and iteratively selects follow‑up questions that are most informative. When clinicians confirm new phenotypes, the disease ranking is updated, and the set of candidate questions is refined, leading to significant gains—up to 30% in Recall@1 and 45% in Recall@5—across four benchmark cohorts.
arXiv:2608.10725v2 Announce Type: replace Abstract: Large language models (LLMs) often rely on shortcuts rather than systematic reasoning, raising safety concerns in medical applications. Allowing mo...
arXiv:2607. 23290v1 Announce Type: new Abstract: Rare diseases collectively affect an estimated 3.