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The landscape of genomic structural variation in Indigenous Australians

Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.

Citation:
Reis ALM, Rapadas M, Hammond JM, ……. Llamas B, Brown A, Baynam G, Mann GJ, ……. Pearson G, et al for the National Centre for Indigenous Genomics. The landscape of genomic structural variation in Indigenous Australians. Nature. 2023;624(7992):602-10.

Keywords:
Australian Aboriginal and Torres Strait Islander Peoples; genetics; datasets; genomics; interspersed repetitive sequences; genomic structual variation

Abstract:
Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.