Diagnosing rare Mendelian 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 study is published in NEJM AI.
Using AI to improve diagnosis of rare genetic disorders
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