| Description | Latin American populations remain vastly underrepresented in genomic references, limiting their benefit from precision medicine. Here, we analyzed data from 1,149 individuals in 30 Peruvian populations—including 17 Indigenous and 13 mestizo groups—using deep whole-genome sequencing (n = 150) and high‐density SNP array genotyping (n = 873). Over 1.6 million variants (~ 13%) were novel relative to major databases, underscoring uncharted genetic diversity. We identified 1,210 high‐impact variants (e.g., stop‐gained, splice‐site) with allele frequencies below 1% globally, 94% of which were unannotated in ClinVar. Pharmacogenomic profiling of 56 drug‐response genes revealed distinct allele frequency patterns, including clinically actionable variants in CYP2D6, CYP2C19, UGT1A1, and G6PD, emphasizing the need for population‐specific guidelines. These findings highlight how expanding genomic data from understudied groups can improve risk prediction, enable targeted screening, and ultimately foster more equitable genome medicine throughout Latin America. |
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