title: PhenoStacks: Cross-Sectional Cohort Phenotype Comparison Visualizations.
abstract: Cross-sectional phenotype studies are used by genetics researchers to better understand how phenotypes vary across patients with genetic diseases, both within and between cohorts. Analyses within cohorts identify patterns between phenotypes and patients (e.g., co-occurrence) and isolate special cases (e.g., potential outliers). Comparing the variation of phenotypes between two cohorts can help distinguish how different factors affect disease manifestation (e.g., causal genes, age of onset, etc.). PhenoStacks is a novel visual analytics tool that supports the exploration of phenotype variation within and between cross-sectional patient cohorts. By leveraging the semantic hierarchy of the Human Phenotype Ontology, phenotypes are presented in context, can be grouped and clustered, and are summarized via overviews to support the exploration of phenotype distributions. The design of PhenoStacks was motivated by formative interviews with genetics researchers: we distil high-level tasks, present an algorithm for simplifying ontology topologies for visualization, and report the results of a deployment evaluation with four expert genetics researchers. The results suggest that PhenoStacks can help identify phenotype patterns, investigate data quality issues, and inform data collection design.
authors: Michael
authors: M
authors: Glueck
authors: Alina
authors: A
authors: Gvozdik
authors: Fanny
authors: F
authors: Chevalier
authors: Azam
authors: A
authors: Khan
authors: Michael
authors: M
authors: Brudno
authors: Daniel
authors: D
authors: Wigdor
mesh_terms: D015331:Cohort Studies; D003196:Computer Graphics; D023281:Genomics; D006801:Humans; D007091:Image Processing, Computer-Assisted; D010641:Phenotype