MEDRD: An AI-Driven Rare Disease Diagnosis Chatbot using Retrieval- Augmented Generation and Phenotype Reasoning

Abstract excerpt

<title>Abstract</title> <p>Rare diseases are very hard to diagnose. They do not happen often and can show symptoms doctors may not be familiar with. Doctors do not always know much about them, which makes diagnosis difficult. Large computer programs called language models are good at understanding medical information and finding answers. However, they are not widely used in doctors’ systems because they can somet...

Topics

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• Diagnosis, Differential
• Genomics and Rare Diseases
• Phenotype
• Rare Diseases

Identifiers and source

Literature Corpus work

40373f8d-0cdc-5ed5-9a1e-e60b9872e26a

DOI

10.21203/rs.3.rs-9344681/v1