title: PhenoBlocks: Phenotype Comparison Visualizations.
abstract: 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.
authors.forename: Michael
authors.initials: M
authors.lastname: Glueck
authors.forename: Peter
authors.initials: P
authors.lastname: Hamilton
authors.forename: Fanny
authors.initials: F
authors.lastname: Chevalier
authors.forename: Simon
authors.initials: S
authors.lastname: Breslav
authors.forename: Azam
authors.initials: A
authors.lastname: Khan
authors.forename: Daniel
authors.initials: D
authors.lastname: Wigdor
authors.forename: Michael
authors.initials: M
authors.lastname: Brudno
mesh_terms: D019295:Computational Biology / Q000379:methods*; D003196:Computer Graphics; D003936:Diagnosis, Computer-Assisted / Q000379:methods*; D057286:Electronic Health Records; D006801:Humans; D010641:Phenotype; D014584:User-Computer Interface