AoU Research Priorities Use Cases

Investigate penetrance of known disease associated rare variants for rare disease eg APS1

The goal of this study is to ascertain clinical implications of rare variants associated with rare disease such as autoimmune polyglandular syndrome type 1. Whole genome sequencing will discover variants known to cause disease, likely 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.

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Idea No. 838