Published on in Vol 8, No 10 (2020): October

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/18395, first published .
Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

Phenotypically Similar Rare Disease Identification from an Integrative Knowledge Graph for Data Harmonization: Preliminary Study

Qian Zhu   1 , PhD ;   Dac-Trung Nguyen   1 , MS ;   Gioconda Alyea   2 , MS, MD ;   Karen Hanson   2 , MS, MBA ;   Eric Sid   3 , MD, MHA ;   Anne Pariser   3 , MD

1 Division of Pre-Clinical Innovation, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Rockville, MD, United States

2 ICF International Inc, Rockville, MD, United States

3 Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, MD, United States

Corresponding Author:

  • Qian Zhu, PhD
  • Division of Pre-Clinical Innovation
  • National Center for Advancing Translational Sciences (NCATS)
  • National Institutes of Health (NIH)
  • 9800 Medical Center Drive
  • Rockville, MD, 20850
  • United States
  • Phone: 1 301-4807841
  • Email: qian.zhu@nih.gov