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.
By Kamilia Zaripova, Nassir Navab, Azade Farshad, Annalisa Marsico
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.
By Zhaoyang Jiang, Zhizhong Fu, Yunsoo Kim, Zicheng Li, Xuanqi Peng, Fei Teng, Jiacong Mi, Honghan Wu
arXiv:2607. 23290v1 Announce Type: new Abstract: Rare diseases collectively affect an estimated 3.
By Xi Chen, Hongru Zhou, Shiyu Feng, Hanyu Zhou, Huahui Yi, Rongsheng Wang, Tiancheng He, Kun Wang, Pingping Liu, Qiankun Li, Sicheng Lin, Huiying Ou, Xiaohong Zheng, Tianying Zang, Zhuohang Wu, Leheng Jiang, Kexin Cao, Wenhan Zhang, ChengYi Li, Zhiyang Wang, Songlin Li, Benyou Wang, Ningbei Yin, Shaoting Zhang, Weili Fu, Jian Li, Kang Li
arXiv:2609.35549v2 Announce Type: replace
Abstract: Rare-disease diagnosis is a long-tail reasoning problem: phenotypes are incomplete, individual disorders are sparsely documented, and relevant evid...
By Bo Zhang, Yuchen Wang, Dongbai Li, Matthew Yu Heng Wong, Qingkai Zeng, Lijun Wang, Tien-Yin Wong, Peng Cui, Tianyu Liu
arXiv:2607. 07717v1 Announce Type: new Abstract: In chest X-ray (CXR) classification, acceptable ranking performance can still leave rare-positive patients below threshold, especially within subgroups.
By Ha-Hieu Pham, Hai-Dang Nguyen, Dang P. M. Cao, Thanh-Huy Nguyen, Min Xu, Trung-Nghia Le, Ulas Bagci, Huy-Hieu Pham
In chest X-ray (CXR) classification, acceptable ranking performance can still leave rare-positive patients below threshold, especially within subgroups. We study this pre-deployment fairness problem as an audit question: after a long-tailed multi-label CXR model is converted from scores into decisions, who is missed?
Automated radiology report generation is advancing rapidly in response to the shortage of radiologists, yet unlike a perception model, existing generation models offer no control over the sensitivity-specificity trade-off of their diagnostic content. Such control is essential because clinical scenarios diverge: emergency triage prioritizes sensitivity to reduce missed findings, whereas confirmatory interpretation emphasizes specificity to limit unnecessary interventions.
arXiv:2608. 10505v1 Announce Type: new Abstract: Automated radiology report generation is advancing rapidly in response to the shortage of radiologists, yet unlike a perception model, existing generation models offer no control over the sensitivity-specificity trade-off of their diagnostic content.
By Ying Jin, Noel C. F. Codella, John Corring, Mu Wei, Dinei Florencio, Eric Horvitz
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.
By Minh-Ha Nguyen, Erica Gray, Chih-Ting Yang, Rizwan Hamid, Lingyao Li, Siyuan Ma, Thomas A. Cassini, Cathy Shyr
arXiv:2607. 28788v1 Announce Type: new Abstract: Clinical diagnosis at hospital admission must be made rapidly from limited, incomplete evidence.
By Jiahui Li, Ruili Fang, Zishuai Liu, Yutong Guo, Nan Yang, Wenzhan Song, Jin Lu, Fei Dou
arXiv:2605. 12895v2 Announce Type: replace-cross Abstract: Clinical decision-support systems are expert systems whose recommendations clinicians act on directly, yet they are usually cleared on one aggregate accuracy number from a held-out test set.
By Rohith Reddy Bellibatlu, Manpreet Singh, Yash Jajoo, Shyamal Lakhanpal, Abhishek Israni
arXiv:2609.40361v1 Announce Type: cross
Abstract: Multimodal large language models (MLLMs) are rapidly advancing clinical diagnosis, yet their adaptation pipelines remain anchored to accuracy-based o...
By Tian Xia, Minghao Liu, Yiqing Liang, Laixi Shi, Jiayun Wang