Measuring phenotype semantic similarity using Human Phenotype Ontology

Jiajie Peng, Hansheng Xue, Yukai Shao, Xuequn Shang, Yadong Wang, Jin Chen

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

7 Scopus citations

Abstract

It is critical yet remains to be challenging to make right disease diagnosis based on complex clinical characteristic and heterogeneous genetic background. Recently, Human Phenotype Ontology (HPO)-based phenotype similarity has been widely used to aid disease diagnosis. However, the existing measurements are revised based on the Gene Ontology-based term similarity models, which are not optimized for human phenotype ontologies. We propose a new similarity measure called PhenoSim. Our model includes a noise reduction component to model the noisy patient phenotype data, and a path-constrained Information Content-based method for measuring phenotype semantics similarity. Evaluation tests showed that PhenoSim could improve the performance of HPO-based phenotype similarity measurement.

Original languageEnglish
Title of host publicationProceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016
EditorsKevin Burrage, Qian Zhu, Yunlong Liu, Tianhai Tian, Yadong Wang, Xiaohua Tony Hu, Qinghua Jiang, Jiangning Song, Shinichi Morishita, Kevin Burrage, Guohua Wang
Pages763-766
Number of pages4
ISBN (Electronic)9781509016105
DOIs
StatePublished - Jan 17 2017
Event2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 - Shenzhen, China
Duration: Dec 15 2016Dec 18 2016

Publication series

NameProceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016

Conference

Conference2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016
Country/TerritoryChina
CityShenzhen
Period12/15/1612/18/16

Bibliographical note

Publisher Copyright:
© 2016 IEEE.

ASJC Scopus subject areas

  • Genetics
  • Medicine (miscellaneous)
  • Genetics(clinical)
  • Biochemistry, medical
  • Biochemistry
  • Molecular Medicine
  • Health Informatics

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