Clustering rare diseases within an ontology-enriched knowledge graph
Author:
Affiliation:
1. Division of Pre-Clinical Innovation, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH) , Rockville, MD, United States
2. Chief Technology Office, Booz Allen Hamilton , Bethesda, MD, United States
Abstract
Funder
Intramural Research Program
National Center for Advancing Translational Sciences
National Institutes of Health
Publisher
Oxford University Press (OUP)
Subject
Health Informatics
Link
https://academic.oup.com/jamia/article-pdf/31/1/154/54762298/ocad186.pdf
Reference45 articles.
1. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database;Nguengang Wakap;Eur J Hum Genet,2020
2. The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems;Tisdale;Orphanet J Rare Dis,2021
3. How many rare diseases are there?;Haendel;Nat Rev Drug Discov,2020
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