AI May Boost Diagnosis of Rare Genetic Disorders
Authors say AI-MARRVEL tool shows potential for primary diagnosis, reanalysis of unsolved cases, and discovery of novel disease genes.
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Authors say AI-MARRVEL tool shows potential for primary diagnosis, reanalysis of unsolved cases, and discovery of novel disease genes.
Investigators at Baylor College of Medicine developed a new AI system called AI-MARRVEL (AIM) that helps doctors diagnose rare genetic diseases more quickly and accurately. The research was published in the journal NEJM AI.
Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to...
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.
<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>