Illustration showing that transcription of a greater number of rare functional variants increases the risk for diabetes in a population.

FIGURE 4.

The Concept of Gene Burden Testing.

Genes that are important for disease pathology may contain multiple rare functional variants that collectively are associated with altered risk of diabetes. This potential can be formally assessed using exome sequence data from individuals with and without diabetes. Filters can be applied, such as how common the variant is in the population and whether the variant is predicted to alter protein function.

SOURCE: Original figure constructed by A. L. Gloyn, using BioRender.com

From: Genetics of Type 2 Diabetes

Cover of Diabetes in America
Diabetes in America [Internet].
Lawrence JM, Casagrande SS, Herman WH, et al., editors.
Copyright Notice

Diabetes in America is in the public domain of the United States. You may use the work without restriction in the United States.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.