Subgrouping rare disease patients leveraging the human phenotype ontology embeddings

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1 Scopus citations

Abstract

In the USA, rare diseases are defined as those affecting fewer than 200,000 patients at any given time. It usually takes substantial time and long journey for rare disease patients to seek care before receiving a correct diagnosis. Making the right phenotypic characterization is the initial step to speed up such differential diagnosis at early time and the Human Phenotype Ontology (HPO) is a comprehensive knowledgebase supporting this goal. Previously, we have constructed various node embeddings for the HPO incorporating heterogeneous biomedical knowledge repositories. In this study, we applied unsupervised learning strategies over different HPO embeddings, aiming to further subgroup rare disease patients based on phenotypic characterizations.

Original languageEnglish (US)
Title of host publicationProceedings - 2020 IEEE 33rd International Symposium on Computer-Based Medical Systems, CBMS 2020
EditorsAlba Garcia Seco de Herrera, Alejandro Rodriguez Gonzalez, KC Santosh, Zelalem Temesgen, Bridget Kane, Paolo Soda
PublisherInstitute of Electrical and Electronics Engineers Inc.
Pages169-172
Number of pages4
ISBN (Electronic)9781728194295
DOIs
StatePublished - Jul 2020
Event33rd IEEE International Symposium on Computer-Based Medical Systems, CBMS 2020 - Virtual, Online, United States
Duration: Jul 28 2020Jul 30 2020

Publication series

NameProceedings - IEEE Symposium on Computer-Based Medical Systems
Volume2020-July
ISSN (Print)1063-7125

Conference

Conference33rd IEEE International Symposium on Computer-Based Medical Systems, CBMS 2020
Country/TerritoryUnited States
CityVirtual, Online
Period7/28/207/30/20

Keywords

  • Human phenotype ontology embeddings
  • Patients subgrouping
  • Phenotypic characterization
  • Rare disease

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Computer Science Applications

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