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AI for Faster Diagnosis of Rare Disease

A number of companies are exploring whether artificial intelligence could be applied to diagnose rare genetic diseases, Forbes reports.

One such firm, it notes, is the Israel-based Emdgene, which is combining scans of DNA data files with natural language processing-based analyses of the medical literature. Through this, Emdgene hopes to spot connections between patients' gene variants and their conditions to lead to a diagnosis more quickly, according to Forbes.

"Every person's DNA contains millions of genetic variants that are harmless, and geneticists in labs have to identify the single causative variant for the diseases out of all of those variants," co-founder and CEO Einat Metzer tells it. "When labs don't use an algorithmic approach, this typically involves filtering through hundreds of genetic variants manually."

Her firm's approach instead uses machine learning algorithms to speed these steps up, Metzer adds. 

Forbes further notes that other firms like Fabric Genomics and Nostos Genomics are similarly applying AI to diagnose rare disease. Earlier this year, investigators at the Rady Children's Institute for Genomic Medicine reported they used a workflow that included Fabric's algorithms to quickly diagnose children with rare genetic diseases.

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