Article
Joint testing of rare variant burden scores using non-negative least squares.
American journal of human genetics - 3 Oct 2024
Ziyatdinov Andrey, Mbatchou Joelle, Marcketta Anthony, Backman Joshua, Gaynor Sheila, Zou Yuxin, Joseph Tyler, Geraghty Benjamin, Herman Joseph, Watanabe Kyoko, Ghosh Arkopravo, Kosmicki Jack, Locke Adam, Thornton Timothy, Kang Hyun Min, Ferreira Manuel, Baras Aris, Abecasis Goncalo, Marchini Jonathan
Abstract excerpt
Gene-based burden tests are a popular and powerful approach for analysis of exome-wide association studies. These approaches combine sets of variants within a gene into a single burden score that is then tested for association. Typically, a range of burden scores are calculated and tested across a range of annotation classes and frequency bins. Correlation between these tests can complicate the multiple testing...
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