Proportional Visualization of Genotypes and Phenotypes with Rainbow Boxes: Methods and Application to Sickle Cell Disease

摘要

Visualization tools allow visual and interactive data exploration for facilitating the interpretation of complex data sets. The Center for Research and Ambulatory Care of the Sickle Cell Disease (CERPAD), leading the neonatal screening of sickle cell program in Saint-Louis of Senegal, aims at setting up a long term database on which data analysis and reporting tools are built for epidemiological and socioanthropological studies. In this paper, we propose a tool for the proportional visu- alization of genotypes and phenotypes, using rainbow boxes, a recently introduced set visualization technique. We propose an improvement for rainbow boxes, featuring area-proportional boxes instead of height-proportional boxes. This new approach is integrated in the SIMENS module of the CERPAD for the visualization of sickle cell data proportion according to genotypes and phenotypes, and by ethnic groups. A qualitative evaluation is provided by two domain experts.