AoU Research Priorities Use Cases

Understand implications of rare deleterious variants in an unselected population

The goal of this study is to ascertain clinical implications of rare genetic variants predicted to be deleterious discovered in individuals not carrying the diagnosis. Using existing phenotypes or potentially with recontact to participants physiological impact of variants on health and disease can be understood.

The remaining questions allow you to outline in more detail the information needed to address your research question. The series of questions allow up to five entries. If you have more than five entries, please try to prioritize them and enter the remainder in the final field. When done, click Submit at the bottom. No



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Idea No. 839