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

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 screeni...

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書誌詳細
出版年:Genet Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group US 2018
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6443485/
https://ncbi.nlm.nih.gov/pubmed/30270359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0311-2
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