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Artificial Intelligence in the Diagnosis of Pediatric Rare Diseases: From Real World Data Towards a Personalized Medicine Approach

2025-07-17

Abstract excerpt

<h4>Background: </h4> Artificial intelligence (AI) is increasingly used in the diagnosis of pediatric rare diseases, helping to improve the speed, accuracy, and accessibility of genetic interpretations. This development supports the ongoing shift toward personalized medicine in clinical genetics. <h4>Objective:</h4> This review explores current applications of AI in pediatric rare disease diagnostics, with an emph...

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Literature Corpus work
232791b8-85c5-5ede-88f5-19491be0e7bc
DOI
10.20944/preprints202507.1405.v1
Open publication

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