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

PurposeLarge-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.MethodsThe Estonian Biobank of Estonian Genome Center, University of...