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 on three patient data sets. Compared with four existing top-performing algorithms, AIM doubled the number of solved cases. AIM achieved a precision rate of 98% and identified 57% of diagnosable cases.