Application of artificial intelligence technology: Clinical demands, status and challenges of clinical decision support system for rare diseases / 第二军医大学学报

The incidence of rare diseases is extremely low, but the overall number of patients with rare diseases is quite large. The consequences of rare diseases are severe and impose a heavy burden on patients, their families and the entire society. Although there are many researches on gene sequencing technology and clinical decision support system (CDSS) combined with artificial intelligence technology to assist the diagnosis of rare diseases, the diagnosis of rare diseases remains a great challenge in clinical practice. In this paper, we briefly reviewed the CDSS for rare diseases, aiming to analyze the current technique status and challenges of artificial intelligence technology in rare diseases.