Jiajie Peng, Hansheng Xue, Y. Shao, Xuequn Shang, Yadong Wang, Jin Chen
{"title":"Measuring phenotype semantic similarity using Human Phenotype Ontology","authors":"Jiajie Peng, Hansheng Xue, Y. Shao, Xuequn Shang, Yadong Wang, Jin Chen","doi":"10.1109/BIBM.2016.7822617","DOIUrl":null,"url":null,"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.","PeriodicalId":345384,"journal":{"name":"2016 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","volume":"2021 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"5","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"2016 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1109/BIBM.2016.7822617","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 5
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.