Using portrait photos in combination with genetic and patient data improves diagnoses

Every year, around a half-million children worldwide are born with a rare hereditary disease. Obtaining a definitive diagnosis can be difficult and time consuming. In a study of 679 patients with 105 rare diseases, scientists from the University of Bonn and the Charité-Universitätsmedizin Berlin have shown that artificial intelligence can diagnose rare diseases more efficiently and reliably. Now, researchers are testing a neural network that automatically combines portrait photos with genetic and patient data. The results are published in the journal Genetics in Medicine.

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