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Using AI to improve diagnosis of rare genetic

<p>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 today in <em>NEJM AI</em>.</p>
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Baylor College Of Medicine , United States , Linhua Wang , Lindsayc Burrage , Pengfei Liu , Seon Young Kim , Victor Perez , Shinya Yamamoto , Michael Wangler , Chaozhong Liu , Priyank Shukla , Linyan Meng , Jilla Rosenfeld , Zhandong Liu , Brendan Lee , Christine Eng , Michael Santana , Sasidhar Pasupuleti , Dongxue Mao , Hugo Bellen , Cole Deisseroth , Dan Duncan Neurological Research Institute , Al Hussein Technical University , Service Professor , Investigators At Baylor College Of Medicine , National Institutes Of Undiagnosed Diseases Network ,