Article
Joint association testing of common and rare genetic variants using hierarchical modeling.
Genetic epidemiology - 1 Sept 2012
Cardin Niall J, Mefford Joel A, Witte John S
Abstract excerpt
New sequencing technologies provide an opportunity for assessing the impact of rare and common variants on complex diseases. Several methods have been developed for evaluating rare variants, many of which use weighted collapsing to combine rare variants. Some approaches require arbitrary frequency thresholds below which to collapse alleles, and most assume that effect sizes for each collapsed variant are either...
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