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.
MLA Glueck, M., Gvozdik, A., Chevalier, F., Khan, A., Brudno, M., & Wigdor, D. (2017). PhenoStacks: cross-sectional cohort phenotype comparison visualizations. IEEE transactions on visualization and computer graphics, 23(1), 191-200.
Visual data representations leverage the power of human perception to process complex information, and through interaction, garner new insights. Our research focuses on visualizing data from a wide variety of domains and fundamentally tackles the question, what makes a visualization effective? We explore novel visual encodings and interaction techniques, multiscale approaches, and even simulation to bridge human and automated analysis of multivariate, time-series, and graph data, ultimately aiding in hypothesis generation, testing, and sense making.