Article
Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study.
American journal of human genetics - 7 Apr 2022
Wang Yanbing, Chen Han, Peloso Gina M, Meigs James B, Beiser Alexa S, Seshadri Sudha, DeStefano Anita L, Dupuis Josée
Abstract excerpt
A challenge in standard genetic studies is maintaining good power to detect associations, especially for low prevalent diseases and rare variants. The traditional methods are most powerful when evaluating the association between variants in balanced study designs. Without accounting for family correlation and unbalanced case-control ratio, these analyses could result in inflated type I error. One cost-effective...
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