ArticleAmerican journal of human genetics2025
Rare-variant association studies: When are aggregation tests more powerful than single-variant tests?
Article in American journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Rare protein-disrupting variants inmedRxiv : the preprint server for health sciences · 2026Article
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Authors and funding
3 authors.
Funding
Abstract
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. We investigate the range of genetic models for which aggregation tests are expected to be more powerful than single-variant tests for rare-variant association studies. We consider a normally distributed trait following an additive genetic model with c causal out of v total rare variants in an autosomal gene/region with region heritability h
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Registered trials
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