VisAC: An interactive tool for visual analysis of consanguinity in the ancestry of individuals

摘要

Genealogy studies are growing in popularity, and researchers are increasingly using visualization methods to summarize and communicate their findings. A family tree is a visual representation of family members and their relationships that is commonly used to support the research of a family’s history and publish the results. In some cases, an ancestor may occur in more than one place in the lineage of an individual, which is one of the reasons for the occurrence of consanguineous marriages, that is, marriages between blood relative spouses. Current methods for family tree visualization were not designed to analyze and assess the level of consanguinity in the ancestry of individuals. This paper proposes VisAC, an interactive tool to support the visual analysis of consanguinity in individuals’ ancestry. The inbreeding coefficient is used as a measure of consanguinity. The coefficient corresponds to an estimate of the probability that two alleles (a variant of a given gene) in the DNA were inherited from the same individual. A visualization design and an interactive tool were developed with genealogists’ support. In addition, the feedback collected through a questionnaire about two demo videos and tests with three target users strongly supports the effectiveness of the family tree visual representation and the adequacy of the interactive tool for the exploratory analysis task. Real-world examples are given to illustrate the usefulness of the visualization design, and an example of exploratory analysis is presented to illustrate the use of the interactive tool. In summary, this work formulates the task of visual analysis of consanguinity in ancestors’ trees and proposes VisAC, a new visualization tool to support the task.