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Helping To Diagnose Rare Disease In Record Time

05:04 EDT 3 May 2019 | Lab Bulletin

Helping-To-Diagnose-Rare-Disease-In-Record-Time new study, published in Science Translational Medicine, details the pioneering work undertaken by a collaboration led by Stephen Kingsmore, MD, DSc, President and CEO of Rady Children’s Institute for Genomic Medicine. The team, which includes British company Clinithink, utilized a machine learning process and clinical natural language processing to diagnose rare genetic diseases in record time....

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