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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443485/
https://www.ncbi.nlm.nih.gov/pubmed/30270359
http://dx.doi.org/10.1038/s41436-018-0311-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443485/
https://www.ncbi.nlm.nih.gov/pubmed/30270359
http://dx.doi.org/10.1038/s41436-018-0311-2

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