Analyzing factors involved in the HPO-based semantic similarity calculation

Jiajie Peng, Qianqian Li, Bolin Chen, Jialu Hu, Xuequn Shang

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

Abstract

Although disease diagnosis have greatly benefited from next generation sequencing technologies, it is still difficult to make the right diagnosis based on purely sequencing technologies for many diseases with complex phenotypes and high genetic heterogeneity. Recently, calculating Human Phenotype Ontology (HPO)-based phenotype semantic similarity has contributed a lot for completing disease diagnosis. However, factors which affect the accuracy of HPO-based semantic similarity have not been evaluated systematically. In this study, we propose a new framework called HPOFactor to evaluate these factors.

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
PublisherInstitute of Electrical and Electronics Engineers Inc.
Pages1653-1656
Number of pages4
ISBN (Electronic)9781509016105
DOIs
StatePublished - 17 Jan 2017
Event2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 - Shenzhen, China
Duration: 15 Dec 201618 Dec 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
Period15/12/1618/12/16

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