Designing Approachable and Accessible Visualizations of Genomics Data for a Mixed Audience

Abstract

Public health studies have collected significant amounts of data providing important insights into human health. The Norwegian Mother, Father, and Child Cohort Study (MoBa) is a pregnancy-based cohort study that captures information about pregnancy and the health of parents and offspring. The study offers data that helps to uncover the genetic underpinnings of traits and diseases. Hence, it presents interest for researchers in public health and genetic epidemiology, as well as a lay audience interested in genetics and how they shape our health. However, the complexity and sensitivity of MoBa data pose challenges for its exploration, analysis, and dissemination. This thesis presents a design study resulting in the GWAS Explorer – a web-based visual tool designed to facilitate the exploration and analysis of MoBa data by both experts and non-experts. This tool provides experts with tools to explore MoBa data interactively and identify genetic variants associated with health conditions. The GWAS Explorer, while providing the same tools for non-experts, also offers an interactive, step-by-step guide to onboard lay users to the application. The guide introduces MoBa data and the analysis workflow of domain experts. This thesis details aspects of the development of the GWAS Explorer, including the analysis of the domain and problem space, the design of visual and interaction idioms, implementation, and evaluation. The thesis explores how to serve two distinct groups of users within a single application: enabling domain experts to explore and analyze MoBa data while also introducing the MoBa study to an interested general audience and providing them with tools for its exploration.