ArticleJAMA network open2025
Large Language Models for Rare Disease Diagnosis at the Undiagnosed Diseases Network.
Article in JAMA network open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed.
- Evaluation of DeepSeek with a RAG-based knowledge base in preoperative assessment for arthroplasty to improve the decision-making accuracy of junior physicians.Arthroplasty (London, England) · 2026Article
- Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field.Neurology and therapy · 2026Review
- Development of a Framework for Evaluating Large Language Model Safety and Reliability: a Proof-of-Concept Evaluation.Journal of medical systems · 2026Article
- Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians' Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog.Journal of medical Internet research · 2026Article
- Artificial intelligence for pediatric rare disease diagnosis: a multimethod study integrating published evidence and clinician interviews.BMC medical informatics and decision making · 2026Article
- A Multimodal Biomedical Transformer Fusion Network for Disease-Level Rare-Disease-Inheritance Classification Using Ontology-Enriched Text, Metadata, and Gene Associations.Biomedicines · 2026Article
- Reframing AI for Rare Disease Recognition.Research square · 2026Article
- Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis.medRxiv : the preprint server for health sciences · 2026Article
- GEN-KnowRD: Reframing AI for Rare Disease Recognition.medRxiv : the preprint server for health sciences · 2026Article
- Large Language Models in Clinical Neurology: A Systematic Review.Research square · 2026Article
- Scaling medical AI across clinical contexts.Nature medicine · 2026Review
- Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.JIMD reports · 2026Article
- A statistical framework for evaluating the repeatability and reproducibility of large language models.medRxiv : the preprint server for health sciences · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
PubMed holds no abstract for this paper.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.