Application of artificial intelligence technology: clinical demands, status and challenges of clinical decision support system for rare diseases
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Biomedical Informatics Research Center,Shanghai Children’s Hospital,Shanghai Jiao Tong University,Biomedical Informatics Research Center,Shanghai Children’s Hospital,Shanghai Jiao Tong University,Department of Child Healthcare,Shanghai Children’s Hospital,Shanghai Jiao Tong University,Biomedical Informatics Research Center,Shanghai Children’s Hospital,Shanghai Jiao Tong University,Biomedical Informatics Research Center,Shanghai Children’s Hospital,Shanghai Jiao Tong University,Biomedical Informatics Research Center,Shanghai Children’s Hospital,Shanghai Jiao Tong University

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Supported by Leading Scientist Plan of Shanghai Science and Technology Commission (18XD1403200), Project of Shanghai Big Data Engineering and Technology Research Center for Pediatric Precision Medicine, Special Fund from Shanghai Science and Technology Committee (17DZ22512000), Scientifc Research Project of Health and Family Planning Commision of Shanghai (2018ZHYL0223), and Scientifc Research Project for Young Scientists of Health and Family Planning Commision of Shanghai (20144Y0179).

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    Abstract:

    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.

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History
  • Received:August 06,2018
  • Revised:August 15,2018
  • Adopted:September 07,2018
  • Online: September 07,2018
  • Published:
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