PhenoBlocks: Phenotype Comparison Visualizations

IEEE Trans Vis Comput Graph. 2016 Jan;22(1):101-10. doi: 10.1109/TVCG.2015.2467733.

Abstract

The differential diagnosis of hereditary disorders is a challenging task for clinicians due to the heterogeneity of phenotypes that can be observed in patients. Existing clinical tools are often text-based and do not emphasize consistency, completeness, or granularity of phenotype reporting. This can impede clinical diagnosis and limit their utility to genetics researchers. Herein, we present PhenoBlocks, a novel visual analytics tool that supports the comparison of phenotypes between patients, or between a patient and the hallmark features of a disorder. An informal evaluation of PhenoBlocks with expert clinicians suggested that the visualization effectively guides the process of differential diagnosis and could reinforce the importance of complete, granular phenotypic reporting.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / methods*
  • Computer Graphics*
  • Diagnosis, Computer-Assisted / methods*
  • Electronic Health Records
  • Humans
  • Phenotype*
  • User-Computer Interface