Long-read sequencing reveals archaic structural variants in Papua New Guinean genomes
By
Serena Tucci
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Summary
This study by Hsieh et al. uses long-read sequencing to analyze archaic introgression (Neanderthal and Denisovan DNA) in two Papua New Guinean individuals. It identifies archaic-derived structural variants including unique insertions, deletions, and 11 centromeres potentially of archaic origin. The research addresses the severe underrepresentation of Oceanian populations in human genomics, highlighting that Papua New Guineans carry the largest fractions of archaic DNA (2-5% of modern Eurasian genomes). The study generated 177 high-coverage Near Oceanian whole genomes to better understand how long-term isolation and archaic admixture have shaped functional genetic variation in this region.
Key quotes
· 3 pulledBetween 2 and 5% of modern Eurasian genomes are derived from admixture with Neanderthals and Denisovans, with Papua New Guineans bearing the largest fractions.
Oceanian populations remain underrepresented in genetic studies, resulting in questions about the landscape of archaic introgression.
Near Oceanic populations harbor substantial cultural, phenotypic, and genetic diversity yet are drastically underrepresented in human genomics.
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