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...

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Detalles Bibliográficos
Autores principales: Reiley, Joseph, Botas, Pablo, Miller, Christine E., Zhao, Jian, Malone Jenkins, Sabrina, Best, Hunter, Grubb, Peter H., Mao, Rong, Isla, Julián, Brunelli, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10296792/
https://www.ncbi.nlm.nih.gov/pubmed/37371223
http://dx.doi.org/10.3390/children10060991

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