Using AI to improve diagnosis of rare genetic disorders
Thursday, 25 April 2024 ()
Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators 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.
Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators 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.
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