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This report includes two main views: Overview, which displays a visualization of your personal genomic report as an interactive bubble chart, and Comparison, which provides three visualizations and a table report that allows you to compare your personal genomic data to one of four famous genomes. You can toggle between these two main views and the Glossary by using the tabs at the top of the tool.
Overview:
This report displays a bubble chart visualization of your gene variant report. A gene variant can affect a person's physical and medical traits. Each gene variant is represented by a bubble. There are two views to this visualization, "Graph" and "Category", which can be toggled in the filter bar above the visualization.
In the Graph view, bubbles are organized by the certainty of the scientific evidence on a particular gene variant as well as by the potential health effect of the gene variant. There are three levels of certainty; uncertain, likely, and well-established. There are also three levels of potential health effect; low, medium, and high.
In the Category view, gene variants may appear in multiple categories and therefore multiple bubbles will represent one gene variant. When you click on a gene variant bubble in one category, all bubbles representing the same gene variant will be highlighted. Variants will remain highlighted between the Graph and Category views.
Comparison:
This view displays four tools for comparing your personal genomic data to a famous genome: a venn diagram, a bar visualization, a sunburst visualization, and a table of gene variants. You can click on the corresponding button on the top left corner of the tool to change views. You can change to which famous genome you compare your data by using the radio buttons in the filter menu and clicking "Apply Comparison".
In the sunburst and bar visualizations, each circle or line represents a personal genomic report and each colored filled segment represents a gene variant. The variants that exist in more than one circle or line represent the variants that you share. In the venn diagram, each bubble represents a gene variant. The bubbles in the left circle represent your unique variants, while bubbles in the right are those that only the comparison genome contains. Bubbles in the middle represent the variants that you share with the famous genome selected.
Hover over and click on a colored segment or bubble to learn more information about a gene variant. Information including the variant’s name, clinical importance, potential effect, allele frequency, and a summary about the effects it is associated with will appear in the sidebar titled Variant Information located at the right of your window. You can click the "Save" button to save a variant so that you can read about it later as well.
In the table, row represents a gene variant and the first two columns indicate carrier status. The rows with checkmarks are gene variants or '(carrier)' in both columns represent the variants that you share with the comparison genome. The table includes information about the variant name, a summary about the effects it is associated with, clinical importance, certainty of evidence, potential effect, inheritance pattern, health category, and frequency in the population.
In all views, you can filter variants by category, health effect, or certainty of evidence by clicking on their corresponding buttons at the top of the visualization. After selecting a filter, you can press Apply Filters to implement it.
You can also search the variants by pressing "control-f" or typing in the Search Bar.
If you're having trouble viewing the report, please refresh your page and let us know that you had this problem in the open response questions at the end of this study. If the problem persists, please email wellesleyhcilab@gmail.com.
GenomiX: PGHCI Variant ReportSection 3/3
