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

• Үндсэн зохиолчид: Joseph Reiley (Зохиогч), Pablo Botas (Зохиогч), Christine E. Miller (Зохиогч), Jian Zhao (Зохиогч), Sabrina Malone Jenkins (Зохиогч), Hunter Best (Зохиогч), Peter H. Grubb (Зохиогч), Rong Mao (Зохиогч), Julián Isla (Зохиогч), Luca Brunelli (Зохиогч)
• Формат: Ном
• Хэвлэсэн: MDPI AG, 2023-06-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

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...