Genetic and Epigenetic Landscape of Self-Identified Hispanics/Latino in All Of Us

Long-read sequencing of 1,490 self-identified Hispanic/Latino participants in the All of Us Research Program uncovered 10 million novel variants and over 100 candidate phenotype associations.

• Why it matters: Underrepresentation of many populations in human genetic studies limits discovery and interpretation of medically relevant variation, especially where admixture complicates ancestry-aware analysis.
• What they did: The study used long-read sequencing to profile genetic variation, ancestry, and DNA methylation, then performed fine-mapping and association testing, including methylation analyses.
• The result: Fine-mapping prioritized structural variants over nearby single-nucleotide variants in more than half, linked 3,329 tandem repeats to DNA methylation, and resolved allele-specific methylation and ancestry-linked regulation across paralogous genes.

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