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An online tool for measuring and visualizing phenotype similarities using HPO

  • Harbin University of Technology
  • Northwestern Polytechnical University Xian
  • School of Life Science and Technology, Harbin Institute of Technology
  • School of Computer Science and Technology, Harbin Institute of Technology

科研成果: 期刊稿件文章同行评审

10 引用 (Scopus)

摘要

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.

源语言英语
文章编号571
期刊BMC Genomics
19
DOI
出版状态已出版 - 13 8月 2018

联合国可持续发展目标

此成果有助于实现下列可持续发展目标:

  1. 可持续发展目标 3 - 良好健康与福祉
    可持续发展目标 3 良好健康与福祉

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