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...
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 |
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