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:2606.16149v5 Announce Type: replace Abstract: Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer. Large language models rank the correct disease first i...
arXiv:2607. 23290v1 Announce Type: new Abstract: Rare diseases collectively affect an estimated 3.
arXiv:2606. 16149v3 Announce Type: replace Abstract: Rare disease diagnosis depends on expert reasoning that is scarce and difficult to transfer; off-the-shelf large language models (LLMs) rank the correct disease first in only 35.
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: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. 24510v1 Announce Type: new Abstract: Rare diseases affect millions of individuals worldwide, yet timely diagnosis remains a major public health challenge due to scarcity of specialized clinical expertise.
arXiv:2608.21948v1 Announce Type: new Abstract: Complex clinical reasoning requires models to update diagnostic hypotheses as new evidence emerges and to coordinate different medical specialities und...
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: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...
The paper presents an autonomous AI agent that combines ReAct and Retrieval-Augmented Generation to classify the severity of genetic diseases using 10,211 Human Phenotype Ontology terms. It applies ACMG severity guidelines and ACOG quality-of-life criteria, retrieving PubMed literature to produce interpretable reasoning chains and verify claims. The agent achieved 93.55% accuracy on phenotype-level classification and identified 3,283 autosomal recessive gene pairs with severe presentations, with 95.2% concordance in external validation.
arXiv:2606. 08093v1 Announce Type: new Abstract: Pathology is the cornerstone of modern medicine, where accurate decision-making relies heavily on evidence-based practices.
The paper introduces MACD, a Multi-Agent Clinical Diagnosis framework that enables large language models to self‑learn clinical knowledge through a multi‑agent pipeline of summarization, refinement, and application. MACD is extended into a human‑AI collaborative workflow where multiple diagnostician agents consult iteratively, guided by a judge agent and human oversight. Evaluation on the MIMIC‑MACD cohort shows significant gains in diagnostic accuracy—an average 11.6 percentage‑point improvement over authoritative knowledge for open‑weight LLMs and an 18.3‑percentage‑point boost over physician‑only diagnosis in text‑only vignettes.