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Ontologies, Classifications, and Coding (359) Genomics and Bioinformatics for Clinical Use (53) New Technologies (123)

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 .
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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

Authors of this article:

Qian Zhu1 Author Orcid Image ;   Dac-Trung Nguyen1 Author Orcid Image ;   Gioconda Alyea2 Author Orcid Image ;   Karen Hanson2 Author Orcid Image ;   Eric Sid3 Author Orcid Image ;   Anne Pariser3 Author Orcid Image
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Journals

  1. Sanjak J, Binder J, Yadaw A, Zhu Q, Mathé E. Clustering rare diseases within an ontology-enriched knowledge graph. Journal of the American Medical Informatics Association 2023;31(1):154 View
  2. Guo J, Du Y, Ding F, Wang X, Pei X, Zhao Y, Zhou F, Li F, Guo K, Zhang J. Visual analytics for high reliable knowledge graph fact prediction. Visual Informatics 2026:100321 View
  3. Fendrich L, Högl H, Schmidt R, Bascom D, Berger A, Lübbering M, Ernst G, Schumacher J, Hölzer S, Grigull L. Development, Implementation, and Preliminary Results of a Novel Social Network for Rare Disease Communities: Mixed Methods Study. JMIR Human Factors 2026;13:e80230 View

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  1. Brady D, Al-Mubaid H. Recent Advances in Next-Generation Data Science. View