AI System For Diagnosing Rare Diseases and Solving Medical Cold Cases

Using an artificial intelligence (AI) model that was trained on millions of variants from identified genetic disorders and incorporates the complex decision-making process of human molecular scientists, investigators at Baylor College of Medicine are on track to automate the diagnosis of an enormous number of undiagnosed conditions. Their aim is to prioritize the genes and variants for Mendelian disorders based on the clinical features and sequencing profiles of patients, according to Pengfei Liu, Ph.D., associate professor of molecular and human genetics at Baylor College of Medicine and associate clinical director at Baylor Genetics.