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Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

22 Feb 2023

Abstract excerpt

BACKGROUND: The implications of secondary findings detected in large-scale sequencing projects remain uncertain. We assessed prevalence and penetrance of pathogenic familial hypercholesterolemia (FH) variants, their association with coronary heart disease (CHD), and 1-year outcomes following return of results in phase III of the electronic medical records and genomics network. METHODS: . FH variant prevalence and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37071725
DOI: 10.1161/circgen.122.003816

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