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

Evolution-guided mapping in 1,027 self-identified Black or African American participants from All of Us identified 228 ancestry-enriched/depleted regions and 1,616 loci with putative recent positive selection signals.

• Why it matters: Conventional association scans face a heavy multiple-testing burden, and structural variation is still underexplored; selection signatures can prioritize variants but may be confounded by demographic history.
• What they did: The study used long-read genomes plus demography-calibrated inferences to call local ancestry enrichment/depletion and selection signals, then tested phenome-wide associations using admixture- and selection-based strategies.
• The result: Long-read resolution mapped 15 structural variants to candidate loci (10 within 1,000 base pairs of putative cis-regulatory enhancers), and phenome-wide testing yielded 13 and 446 nominal associations, with 17 replicated after meta-analysis.

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