Validation of an Artificial Intelligence driven framework to automatically detect red flag symptoms in screening for rare diseases in electronic health records: ATTRv polyneuropathy as a key example.

An NLP algorithm, after clinical validation, offers a valid and accurate tool to detect red flag symptoms in medical records across multiple disciplines, supporting better screening for patients with rare diseases. This opens the door to further NLP applications, facilitating rapid diagnosis and early treatment of rare diseases. This article is protected by copyright. All rights reserved.