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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Bibliographic Details
Main Authors: Zekavat, Seyedeh M., Gabriel, Stacey, Lander, Eric Steven, Philippakis, Anthony A.
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Language:English
Published: Springer Science and Business Media LLC 2020
Online Access:https://hdl.handle.net/1721.1/125359