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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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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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Stroke Recovery: Timeline and Stages

After a stroke, emergency care and treatment continue. Here’s a stroke recovery timeline, and the recovery stages and treatment options.

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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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IU researchers receive $4.8 million grant to study the role of misfolded protein TDP-43 in neurodegenerative diseases

A new $4.8 million grant will support researchers from Indiana University School of Medicine and the Medical Research Council Laboratory of Molecular Biology to

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Celine Dion Says "Nothing is Going to Stop Me."

Celine Dion Says "Nothing is Going to Stop Me."
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Global Consortium Investigates Rare Early-Onset Dementia

Global Consortium Investigates Rare Early-Onset Dementia
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Spinal Cord Injury Sparks Metabolic Chaos in Neurons

Spinal Cord Injury Sparks Metabolic Chaos in Neurons
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After spinal cord injury, neurons wreak havoc on metabolism

Conditions such as diabetes, heart attack and vascular diseases commonly diagnosed in people with spinal cord injuries can be traced to abnormal post-injury neu

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