RDmap: a map for exploring rare diseases.

Journal: Orphanet journal of rare diseases
Published Date: Feb 25, 2021

Abstract

BACKGROUND: The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based on similarity will help clinicians and researchers understand and easily explore these diseases.

Authors

  • Jian Yang
    Drug Discovery and Development Research Group, College of Pharmacy and Nutrition, University of Saskatchewan, Saskatoon, SK, Canada.
  • Cong Dong
    Institute for Energy, Environment and Sustainability Research, University of Regina, Regina, Saskatchewan, S4S 0A2, Canada.
  • Huilong Duan
    The College of Biomedical Engineering and Instrument Science, Zhejiang University, 310027 Hangzhou, Zhejiang, China.
  • Qiang Shu
    Cardiac Surgery,Children's Hospital, Zhejiang University School of Medicine, 310052 Hangzhou, Zhejiang, China.
  • Haomin Li
    Clinical Data Center, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 310052 Hangzhou, Zhejiang, China.

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