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CHANGER: A novel genetic reference from 902 unrelated Chilean exomes to enhance South American medical genetics and research.

2026-01-30 genetic and genomic medicine Title + abstract only
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BackgroundGenetic studies have disproportionately focused on populations of European ancestry, limiting the generalizability of allele-frequency references and genetic associations to underrepresented groups, including South American populations. This gap is particularly relevant for rare diseases and cancer, where accurate variant interpretation depends in part on appropriate population context. In addition, population-specific haplotype structure influence genome-wide association analyses and ...

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