Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Open-Source Artificial Intelligence System Supports Diagnosis of Mendelian Diseases in Acutely Ill Infants

Mendelian disorders are prevalent in neonatal and pediatric intensive care units and are a leading cause of morbidity and mortality in these settings. Current diagnostic pipelines that integrate phenotypic and genotypic data are expert-dependent and time-intensive. Artificial intelligence (AI) tools...

Full description

Bibliographic Details
Main Authors: Joseph Reiley, Pablo Botas, Christine E. Miller, Jian Zhao, Sabrina Malone Jenkins, Hunter Best, Peter H. Grubb, Rong Mao, Julián Isla, Luca Brunelli
Format: Article
Language:English
Published: MDPI AG 2023-06-01
Series:Children
Subjects:
artificial intelligence
natural language processing
genomics
differential diagnosis
computer assisted diagnosis
electronic medical record
Online Access:https://www.mdpi.com/2227-9067/10/6/991

Internet

https://www.mdpi.com/2227-9067/10/6/991

Similar Items