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Category: News

A new machine-learning model achieved higher diagnostic accuracy on Mendelian disorders than existing bioinformatic tools

AI-MARRVEL (AIM), a new artificial intelligence (AI) system, was trained using samples diagnosed by experts from the American Board of Medical Genetics and Genomics. The system was subsequently tested

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Speeding the Diagnosis of Rare Genetic Disorders with the Help of Artificial Intelligence

Millions of children around the world are born each year with severe genetic disorders. Many of these are Mendelian disorders, which are rare genetic conditions caused by mutations in

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AI System For Diagnosing Rare Diseases and Solving Medical Cold Cases

Using an artificial intelligence (AI) model that was trained on millions of variants from identified genetic disorders and incorporates the complex decision-making process of human molecular scientists, investigators at

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AI May Boost Diagnosis of Rare Genetic Disorders

A random-forest, machine-learning classifier, artificial intelligence-Model organism Aggregated Resources for Rare Variant ExpLoration (AI-MARRVEL), achieves superior accuracy compared with existing methods for genetic diagnosis, according to a study published

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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 make the process more efficient using artificial intelligence.

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