AI-MARRVEL — A knowledge-driven AI system for diagnosing Mendelian Disorders

“AI-MARRVEL (AIM), uses a random-forest machine-learning classifier trained on over 3.5 million variants from thousands of diagnosed cases. AIM additionally incorporates expert-engineered features into training to recapitulate the intricate decision-making processes in molecular diagnosis. The online version of AIM is available at https://ai.marrvel.org.  To evaluate AIM, we benchmarked it with diagnosed patients from three independent cohorts.”   MORE

Image Credit:  NEJM AI