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An online tool for measuring and visualizing phenotype similarities using HPO

BACKGROUND: The Human Phenotype Ontology (HPO) is one of the most popular bioinformatics resources. Recently, HPO-based phenotype semantic similarity has been effectively applied to model patient phenotype data. However, the existing tools are revised based on the Gene Ontology (GO)-based term simil...

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Autores principales: Peng, Jiajie, Xue, Hansheng, Hui, Weiwei, Lu, Junya, Chen, Bolin, Jiang, Qinghua, Shang, Xuequn, Wang, Yadong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101067/
https://www.ncbi.nlm.nih.gov/pubmed/30367579
http://dx.doi.org/10.1186/s12864-018-4927-z
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author Peng, Jiajie
Xue, Hansheng
Hui, Weiwei
Lu, Junya
Chen, Bolin
Jiang, Qinghua
Shang, Xuequn
Wang, Yadong
author_facet Peng, Jiajie
Xue, Hansheng
Hui, Weiwei
Lu, Junya
Chen, Bolin
Jiang, Qinghua
Shang, Xuequn
Wang, Yadong
author_sort Peng, Jiajie
collection PubMed
description BACKGROUND: The Human Phenotype Ontology (HPO) is one of the most popular bioinformatics resources. Recently, HPO-based phenotype semantic similarity has been effectively applied to model patient phenotype data. However, the existing tools are revised based on the Gene Ontology (GO)-based term similarity. The design of the models are not optimized for the unique features of HPO. In addition, existing tools only allow HPO terms as input and only provide pure text-based outputs. RESULTS: We present PhenoSimWeb, a web application that allows researchers to measure HPO-based phenotype semantic similarities using four approaches borrowed from GO-based similarity measurements. Besides, we provide a approach considering the unique properties of HPO. And, PhenoSimWeb allows text that describes phenotypes as input, since clinical phenotype data is always in text. PhenoSimWeb also provides a graphic visualization interface to visualize the resulting phenotype network. CONCLUSIONS: PhenoSimWeb is an easy-to-use and functional online application. Researchers can use it to calculate phenotype similarity conveniently, predict phenotype associated genes or diseases, and visualize the network of phenotype interactions. PhenoSimWeb is available at http://120.77.47.2:8080.
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spelling pubmed-61010672018-08-27 An online tool for measuring and visualizing phenotype similarities using HPO Peng, Jiajie Xue, Hansheng Hui, Weiwei Lu, Junya Chen, Bolin Jiang, Qinghua Shang, Xuequn Wang, Yadong BMC Genomics Research BACKGROUND: The Human Phenotype Ontology (HPO) is one of the most popular bioinformatics resources. Recently, HPO-based phenotype semantic similarity has been effectively applied to model patient phenotype data. However, the existing tools are revised based on the Gene Ontology (GO)-based term similarity. The design of the models are not optimized for the unique features of HPO. In addition, existing tools only allow HPO terms as input and only provide pure text-based outputs. RESULTS: We present PhenoSimWeb, a web application that allows researchers to measure HPO-based phenotype semantic similarities using four approaches borrowed from GO-based similarity measurements. Besides, we provide a approach considering the unique properties of HPO. And, PhenoSimWeb allows text that describes phenotypes as input, since clinical phenotype data is always in text. PhenoSimWeb also provides a graphic visualization interface to visualize the resulting phenotype network. CONCLUSIONS: PhenoSimWeb is an easy-to-use and functional online application. Researchers can use it to calculate phenotype similarity conveniently, predict phenotype associated genes or diseases, and visualize the network of phenotype interactions. PhenoSimWeb is available at http://120.77.47.2:8080. BioMed Central 2018-08-13 /pmc/articles/PMC6101067/ /pubmed/30367579 http://dx.doi.org/10.1186/s12864-018-4927-z Text en © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Peng, Jiajie
Xue, Hansheng
Hui, Weiwei
Lu, Junya
Chen, Bolin
Jiang, Qinghua
Shang, Xuequn
Wang, Yadong
An online tool for measuring and visualizing phenotype similarities using HPO
title An online tool for measuring and visualizing phenotype similarities using HPO
title_full An online tool for measuring and visualizing phenotype similarities using HPO
title_fullStr An online tool for measuring and visualizing phenotype similarities using HPO
title_full_unstemmed An online tool for measuring and visualizing phenotype similarities using HPO
title_short An online tool for measuring and visualizing phenotype similarities using HPO
title_sort online tool for measuring and visualizing phenotype similarities using hpo
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101067/
https://www.ncbi.nlm.nih.gov/pubmed/30367579
http://dx.doi.org/10.1186/s12864-018-4927-z
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