PhenoBlocks: Phenotype Comparison Visualizations

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.
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Michael Glueck, Peter Hamilton, Fanny Chevalier, Simon Breslav, Azam Khan, et al.. PhenoBlocks: Phenotype Comparison Visualizations. IEEE Transactions on Visualization and Computer Graphics, Institute of Electrical and Electronics Engineers, 2015, 22 (1), pp.101-110. ⟨10.1109/TVCG.2015.2467733⟩. ⟨hal-01226032⟩

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