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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

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to.

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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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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.

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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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