ArticleFrontiers in genetics2025
Winner's curse in rare variant analysis: effect size estimation bias depends on effect direction and the association method used.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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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Authors and funding
3 authors.
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Abstract
For complex human traits, a large portion of genetic heritability remains unaccounted for beyond common genetic variants; therefore, estimating the contribution of rare variants (RVs) to the etiology of complex traits is of interest. Research in this domain has primarily focused on gene-based RV testing methods, in which information from multiple variants is combined to maximize statistical power in detecting genes associated with the trait of interest. However, after discovering an association, estimating individual effects becomes challenging due to sample size limitations. Hence, the focus may shift to estimating the average genetic effect (AGE) for the group of RVs analyzed. This study demonstrates that both AGEs and individual variant effects can be influenced by competing
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