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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2019

Alver Maris, Palover Marili, Saar Aet, Läll Kristi, Zekavat Seyedeh Maryam, Tõnisson Neeme, Leitsalu Liis, Reigo Anu, Nikopensius Tiit, Ainla Tiia, Kals Mart, Mägi Reedik, Gabriel Stacey B, Eha Jaan, Lander Eric S, Irs Alar, Philippakis Anthony, Marandi Toomas, Natarajan Pradeep, Metspalu Andres, Kathiresan Sekar, Esko Tõnu

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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Identifiers

PMID: 30270359
DOI: 10.1038/s41436-018-0311-2
PMCID: PMC6443485

Genes

FH
APOB
LDLR
PCSK9

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