Article
Rare-variant association studies: When are aggregation tests more powerful than single-variant tests?
American journal of human genetics - 7 Aug 2025
Bose Debraj, Fuchsberger Christian, Boehnke Michael
Abstract excerpt
Because single-variant tests are not as powerful for identifying associations with rare variants as for common variants, aggregation tests pooling information from multiple rare variants within genes or other genomic regions were developed. While single-variant tests generally have yielded more associations, recent large-scale biobank studies have uncovered numerous significant findings through aggregation tests....
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