AI-assisted variant scoring to improve diagnosis of rare genetic diseases

Klaus Schmitz-Abe, University of Miami, Miami, FL, United States; Madesh Chinnathevar Ramesh, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States; Qifei Li, University of Miami Miller School of Medicine and Holtz Children's Hospital, Miami, FL, United States; Shiyu Luo, University of Miami Leonard M. Miller School of Medicine, Miami, FL, United States; Pankaj Agrawal, Holtz Children's Hospital Jackson Memorial Hospital, Miami, FL, United States