Learning the Regulatory Code of Alzheimer's Genomes

We introduce a comprehensive framework integrating functional annotations, splicing and enhancer/promoter variants, and brain cell-type-specific rare variant analysis. This approach enhances genome-wide rare variant association tests, improving the identification of AD-relevant genes and regulatory elements with greater specificity. Furthermore, our method uncovers previously unidentified rare variant associations in AD, providing promising targets for future functional validation and therapeutic development.