PhenoBlocks: Phenotype Comparison Visualizations


The differential diagnosis of hereditary disorders is a difficult task for clinicians thanks to the heterogeneity of phenotypes that may be observed in patients. Existing clinical tools are typically text-primarily based and don't 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 unique visual analytics tool that supports the comparison of phenotypes between patients, or between a patient and therefore the hallmark options of a disorder. An informal evaluation of PhenoBlocks with knowledgeable clinicians advised that the visualization effectively guides the process of differential diagnosis and might reinforce the importance of complete, granular phenotypic reporting.

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