NEW YORK (GenomeWeb) – A large-scale analysis of almost 51,000 exomes of patients and their electronic health records by the Regeneron Genetics Center and the Geisinger Health System has revealed clinically actionable variants in 3.5 percent of individuals as well as a number of known and potential drug targets.

The study also demonstrated that exome sequencing can identify individuals at risk of familial hypercholesterolemia (FH), providing an example of the potential clinical benefit of planned similar large-scale sequencing studies, such as the Precision Medicine Initiative.

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