PhenoBlocks: Phenotype Comparison Visualizations

AbstractThe 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. LINK

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