Annotation-Informed Causal Mixture Modeling (AI-MiXeR) reveals phenotype-specific differences in polygenicity and effect size distribution across functional annotation categories
Alexey A. Shadrin, Oleksandr Frei, Olav Bjerkehagen Smeland…·Anders Martin Dale
The paper introduces AI-MiXeR, a method to estimate variant counts and effect sizes across functional annotations using GWAS summary statistics, revealing phenotype-specific polygenicity and effect size differences.