让大模型与本体排序器融合,提升罕见病诊断准确率。
Learning to Fuse LLMs with Ontology Rankers for Rare-Disease Diagnosis

- 基于行为融合模型,结合大模型与本体排序结果及证据支持度。
- 在两个数据集上,召回率最高提升20.18个百分点。
- 融合后仍保留可追溯的本体证据,适合医疗诊断场景。
本体排序器在罕见病诊断中仍具价值,因每个候选疾病均可对应患者表型。大语言模型(LLMs)能从同一患者描述生成鉴别诊断,但缺乏清晰的证据链。我们不问哪个系统该取代另一个,而是探讨大模型能否在不放弃证据链的前提下改进本体排序器。我们的行为融合模型分析两个排名列表、它们的一致性以及每个候选疾病的本体支持度,学习在具体病例中对各系统依赖程度。在比较前,我们移除了由基准数据集和本体注释源自相同文献导致的测试集泄漏路径。在八个开源大模型上,融合使Phenomizer Recall@1在Phenopacket Store上提升7.86个百分点,在RAMEDIS上提升20.18个百分点。当与DeepSeek-V4-Flash通过API结合,仅用其他大模型训练的融合模型,将Recall@1从0.1657提升至0.2176,提升5.19个百分点,无需重新训练。90.8%的正确融合诊断仍保留可检查的候选级本体证据。结果表明,大模型可在不丢弃结构化证据的前提下增强现有诊断工具。
原文摘要 · Abstract (English)
Ontology rankers remain useful for rare-disease diagnosis because each candidate can be traced to matched patient phenotypes. Large language models (LLMs) can generate differential diagnoses from the same patient description, but their predictions lack an equally clear evidence trail. Rather than asking which system should replace the other, we ask whether an LLM can improve the ranker without giving up its evidence. Our behavior-based fusion model examines the two ranked lists, their agreement, and the ontology support behind each candidate, and learns how much to rely on each system for the individual case. Before comparison, we remove a documented test-set leakage pathway caused by benchmark cases and ontology annotations being derived from the same publications. Across eight open LLMs, fusion improves Phenomizer Recall@1 by 7.86 percentage points on Phenopacket Store and 20.18 points on RAMEDIS. When paired with DeepSeek-V4-Flash through an API, a fusion model trained only on the other LLMs improves Recall@1 from 0.1657 to 0.2176, a 5.19-point gain, without retraining. For 90.8% of correct fused diagnoses, the disease retains candidate-level ontology evidence that can be inspected. These results show that LLMs can strengthen an established diagnostic tool without discarding the structured evidence that makes it useful.
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