PhenoBlocks: Phenotype Comparison Visualizations
Related Experiment Video
Updated: Mar 30, 2026

Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
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.
Related Concept Videos
Pedigree Analysis
Pedigree Analysis
Background and Environment Affect Phenotype
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Evolutionary Relationships through Genome Comparisons
Pleiotropy
Multiple Allele Traits

