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Article

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia

26 Sept 2018

Abstract excerpt

PURPOSE: Large-scale, population-based biobanks integrating health records and genomic profiles may provide a platform to identify individuals with disease-predisposing genetic variants. Here, we recall probands carrying familial hypercholesterolemia (FH)-associated variants, perform cascade screening of family members, and describe health outcomes affected by such a strategy. METHODS: The Estonian Biobank of...

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PMID: 30270359
DOI: 10.1038/s41436-018-0311-2

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