Article
PhenoBlocks: Phenotype Comparison Visualizations.
IEEE transactions on visualization and computer graphics - 1 Jan 2016
Glueck Michael, Hamilton Peter, Chevalier Fanny, Breslav Simon, Khan Azam, Wigdor Daniel, Brudno Michael
Abstract excerpt
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...
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