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PhenoBlocks: Phenotype Comparison Visualizations

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. ___________________________ Glueck, M., Hamilton, P., Chevalier, F., Breslav, S., Khan, A., Wigdor, D., & Brudno, M. (2016). PhenoBlocks: Phenotype Comparison Visualizations. Visualization and Computer Graphics, IEEE Transactions on, 22(1), 101-110. http://www.autodeskresearch.com/publi... Autodesk Research http://www.autodeskresearch.com