Evolution-guided association mapping using long-read genomes from a self-identified Black or African American cohort in All of Us

Background: Identifying functional variants that influence human health remains a challenge in human genetics. Conventional genotype-phenotype association studies test millions of variants, imposing a substantial multiple-testing burden as genomic and biobank datasets expand in size and variant diversity. Additionally, the contribution of structural variation, which is a substantial driver of genetic diversity, remains underexplored in these studies. Signatures of recent positive selection offer a powerful biological basis for prioritizing potentially functional variation, although demographic

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