Using AI to Improve Diagnosis of Single Gene Disorders

Gregor Mendel
Diagnosing rare Mendelian (single gene) disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The team developed a machine learning system called AI-MARRVEL (AIM) to help prioritize potentially causative variants for Mendelian disorders. The open-access article was published on April 25, 2024 in NEJM AI. It is titled “AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders.”
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