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Using AI to improve diagnosis of rare genetic disorders

Using AI to improve diagnosis of rare genetic disorders
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Using AI to Improve Diagnosis of Rare Genetic Disorders

Using AI To Improve Diagnosis Of Rare Genetic Disorders

Using AI To Improve Diagnosis Of Rare Genetic Disorders
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Machine learning system offers new hope for diagnosis of rare genetic disorders

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.

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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