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Journal Articles IEEE Transactions on Visualization and Computer Graphics Year : 2015

PhenoBlocks: Phenotype Comparison Visualizations

Michael Glueck
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  • PersonId : 983038
Fanny Chevalier
Simon Breslav
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Azam Khan
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Daniel J. Wigdor
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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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Dates and versions

hal-01226032 , version 1 (14-12-2016)



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