Michael Glueck, Peter Hamilton, Simon Breslav, Fanny Chevalier, Azam Khan, Daniel Wigdor, Michael Brudno
Michael Glueck, Peter Hamilton, Simon Breslav, Fanny Chevalier, Azam Khan, Daniel Wigdor, Michael Brudno
IEEE Transactions on Visualization and Computer Graphics
2016
PhenoBlocks: Phenotype Comparison Visualizations (6:01 min.)
The differential diagnosis of hereditary disorders is a challenging task for clinicians due to the heterogeneity of phenotypesthat can be observed in patients. Existing clinical tools are often text-based and do not emphasize consistency, completeness, orgranularity of phenotype reporting. This can impede clinical diagnosis and limit their utility to genetics researchers. Herein, we presentPhenoBlocks, a novel visual analytics tool that supports the comparison of phenotypes between patients, or between a patient andthe hallmark features of a disorder. An informal evaluation of PhenoBlocks with expert clinicians suggested that the visualizationeffectively guides the process of differential diagnosis and could reinforce the importance of complete, granular phenotypic reporting.
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Visual data representations leverage the power of human perception to process complex information, and through interaction, garner new insights. Our research focuses on visualizing data from a wide variety of domains and fundamentally tackles the question, what makes a visualization effective? We explore novel visual encodings and interaction techniques, multiscale approaches, and even simulation to bridge human and automated analysis of multivariate, time-series, and graph data, ultimately aiding in hypothesis generation, testing, and sense making.