Analyzing factors involved in the HPO-based semantic similarity calculation

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

科研成果: 书/报告/会议事项章节会议稿件同行评审

摘要

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.

源语言英语
主期刊名Proceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016
编辑Kevin Burrage, Qian Zhu, Yunlong Liu, Tianhai Tian, Yadong Wang, Xiaohua Tony Hu, Qinghua Jiang, Jiangning Song, Shinichi Morishita, Kevin Burrage, Guohua Wang
出版商Institute of Electrical and Electronics Engineers Inc.
1653-1656
页数4
ISBN(电子版)9781509016105
DOI
出版状态已出版 - 17 1月 2017
活动2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 - Shenzhen, 中国
期限: 15 12月 201618 12月 2016

出版系列

姓名Proceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016

会议

会议2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016
国家/地区中国
Shenzhen
时期15/12/1618/12/16

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