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Abstract The Biorepository and Integrative Genomics (BIG) Initiative in Tennessee has developed a pioneering resource to address gaps in genomic research by linking genomic, phenotypic, and environmental data from a diverse Mid-South population, including underrepresented groups. We analyzed 13,152 exomes from BIG and found significant genetic diversity, with 50% of participants inferred to have non-European or several types of admixed ancestry. Ancestry within the BIG cohort is stratified, with distinct geographic and demographic patterns, as African ancestry is more common in urban areas, while European ancestry is more common in suburban regions. We observe ancestry-specific rates of novel genetic variants, which are enriched for functional or clinical relevance. Disease prevalence analysis linked ancestry and environmental factors, showing higher odds ratios for asthma and obesity in minority groups, particularly in the urban area. Finally, we observe discrepancies between self-reported race and genetic ancestry, with related individuals self-identifying in differing racial categories. These findings underscore the limitations of race as a biomedical variable. BIG has proven to be an effective model for community-centered precision medicine. We integrated genomics education, and fostered great trust among the contributing communities. Future goals include cohort expansion, and enhanced genomic analysis, to ensure equitable healthcare outcomes. 

The effectiveness of a visualization technique is dependent on how well it supports the tasks or goals of an end-user. To measure the effectiveness of a visualization technique, researchers often use a comparative study design. In a comparative study, two or more visualization techniques are compared over a set of tasks and commonly measure human performance in terms of task accuracy and completion time. Despite the critical role of tasks in comparative studies, the current lack of guidance in existing literature on best practices for task selection and communication of research results in evaluation studies is problematic. In this work, we systematically identify and curate the task-based challenges of comparative studies by reviewing existing visualization literature on the topic. Furthermore, for each of the presented challenges we discuss the potential threats to validity for a comparative study. The challenges discussed in this paper are further backed by evidence identified in a detailed survey of comparative tree visualization studies. Finally, we recommend best practices from personal experience and the surveyed tree visualization studies to provide guidelines for other researchers to mitigate the challenges. The survey data and a free copy of the paper is available at https://osf.io/g3btk/ 

In the task abstraction phase of the visualization design process, including in "design studies", a practitioner maps the observed domain goals to generalizable abstract tasks using visualization theory in order to better understand and address the users needs. We argue that this manual task abstraction process is prone to errors due to designer biases and a lack of domain background and knowledge. Under these circumstances, a collaborator can help validate and provide sanity checks to visualization practitioners during this important task abstraction stage. However, having a human collaborator is not always feasible and may be subject to the same biases and pitfalls. In this paper, we first describe the challenges associated with task abstraction. We then propose a conceptual Digital Collaborator: an artificial intelligence system that aims to help visualization practitioners by augmenting their ability to validate and reason about the output of task abstraction. We also discuss several practical design challenges of designing and implementing such systems. 

Timelines are commonly represented on a horizontal line, which is not necessarily the most effective way to visualize temporal event sequences. However, few experiments have evaluated how timeline shape influences task performance. We present the design and results of a controlled experiment run on Amazon Mechanical Turk (n=192) in which we evaluate how timeline shape affects task completion time, correctness, and user preference. We tested 12 combinations of 4 shapes --- horizontal line, vertical line, circle, and spiral — and 3 data types — recurrent, non-recurrent, and mixed event sequences. We found good evidence that timeline shape meaningfully affects user task completion time but not correctness and that users have a strong shape preference. Building on our results, we present design guidelines for creating effective timeline visualizations based on user task and data types. A free copy of this paper, the evaluation stimuli and data, and code are available https://osf.io/qr5yu/