An online tool for measuring and visualizing phenotype similarities using HPO

BMC Genomics. 2018 Aug 13;19(Suppl 6):571. doi: 10.1186/s12864-018-4927-z.

Abstract

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.

Keywords: Human phenotype ontology; Phenotype similarity; Web tool.

MeSH terms

  • Biological Ontologies
  • Computer Graphics
  • Disease
  • Genes
  • Humans
  • Internet
  • Phenotype*
  • Software*
  • User-Computer Interface