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...

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Main Authors: Joseph Reiley (Author), Pablo Botas (Author), Christine E. Miller (Author), Jian Zhao (Author), Sabrina Malone Jenkins (Author), Hunter Best (Author), Peter H. Grubb (Author), Rong Mao (Author), Julián Isla (Author), Luca Brunelli (Author)
Format: Book
Published: MDPI AG, 2023-06-01T00:00:00Z.
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