January 5, 2017
The DiscovEHR study is a collaboration between the Regeneron Genetics Centre and Geisinger Health System. The study identifies rare mutations and disease causing genetic variants through the linkage of sequencing data from participants and their electronic health records. Of note, the study has found that an estimated 3.5% of their participants have one or more mutations associated with one of 76 clinically-actionable diseases, including familial hypercholesterolemia.
- Not a rare disease