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Advancing precision health discovery in a genetically diverse health system - PubMed

3 hours ago
  • #genomic medicine
  • #health-system biobank
  • #pharmacogenomics
  • Analysis of 93,936 participants from the UCLA ATLAS Community Health Initiative revealed disease prevalence and genetic risk across diverse ancestry groups.
  • Discovery of unreported gene-phenotype associations, such as FN3K with intestinal disaccharidase deficiency in Europeans and admixed Americans.
  • Polygenic scores robustly predicted common diseases, but effects were diminished in non-Europeans, highlighting a European bias.
  • Computational predictors reduced European bias in clinical variants, uncovering new disease-gene associations like ANKZF1 and peripheral vascular disease in African Americans.
  • Longitudinal data showed semaglutide efficacy varies across ancestries, associated with type 2 diabetes polygenic scores and modulated by PTPRU genetic variation.