Article

Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-Analysis

2026-03-27

Abstract excerpt

<h4>Background</h4> Large language models (LLMs) have been evaluated as tools to assist rare disease diagnosis, yet evidence on their accuracy remains fragmented. We conducted a systematic review and meta-analysis to synthesize the available evidence on the diagnostic performance of LLMs, identify sources of heterogeneity, and evaluate the current evidence base for clinical translation. <h4>Methods</h4> We searc...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5d757e61-ba4a-57db-86a6-e16376d7142f
DOI: 10.64898/2026.03.26.26349194

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Diagnostic Accuracy of Large Language Models for Rare Diseases: A Systematic Review and Meta-AnalysisDOI 10.64898/2026.03.26.26349194Read

A systematic review and meta-analysis of the Diagnostic Performance of Large Language Models in Rare DiseasesSemantic proximity Read

One is Not Enough: Multi-Agent Conversation Framework Enhances Rare Disease Diagnostic Capabilities of Large Language ModelsSemantic proximity Read

ChatGPT vs DeepSeek: A Comparative Study of Diagnostic Accuracy and Clinical Reasoning in Rare and Complex DiseasesSemantic proximity Read

A Systematic Review of Large Language Models in Medical Specialties: Applications, Challenges and Future DirectionsSemantic proximity Read

Evaluating Diagnostic Accuracy and Clinical Reasoning of Multiple Large Language Models in PsychiatrySemantic proximity Read

The Effect of LLM Assistance on Diagnostic Accuracy: A Meta-AnalysisSemantic proximity Read

High Consistency, Limited Accuracy: Evaluating Large Language Models for Binary Medical DiagnosisSemantic proximity Read

Novel Insights into the Application of Large Language Models in the Diagnosis and Treatment of Complex Cardiovascular Diseases: A Comparative StudySemantic proximity Read

A Systematic Review of Testing and Evaluation of Healthcare Applications of Large Language Models (LLMs)Semantic proximity Read

Revolutionizing Disease Diagnosis with Large Language Models: A Systematic ReviewSemantic proximity Read

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support toolsSemantic proximity Read

Decoding Rarity: Large Language Models in the Diagnosis of Rare DiseasesSemantic proximity Read