The Human Genomic Landscape of Oceania

TL;DR

This study provides the first comprehensive genomic analysis of populations across Oceania, revealing detailed population structure, historical admixture, and biomedically relevant genetic variation in this understudied region.

Contribution

It offers the first large-scale, region-wide genomic dataset for Oceania, clarifying population relationships, settlement history, and genetic diversity with implications for global human genomics.

Findings

Resolved genetic connections among island populations.

Identified layers of ancestry including Austronesian and archaic introgression.

Mapped biomedically relevant variants with population-specific allele frequencies.

Abstract

Oceania and Island Southeast Asia have a rich, yet understudied, human genomic landscape. This region encompasses some of the first areas inhabited by humans following the out-of-Africa expansion, includes populations with the highest levels of archaic hominin introgression, and contains Pacific islands that are among the most remote continuously inhabited locations in the world. Here, we describe the first region-wide analysis of individuals from population groups spanning Oceania and its broad perimeter. In total we generate and analyze genome-wide data from 92 different populations, 58 separate islands, and 30 countries, covering one third of the planet. Leveraging this diverse dataset, we resolve genetic connections among islands, providing a detailed view of regional population structure and identifying the island groups involved in the settlement of several Polynesian Outliers. Ancestry-specific analyses allow us to deconvolve different layers of history, from tracing groups deriving their Austronesian ancestry via the Lapita expansion to quantifying variable archaic introgression across the basal Papuan component of Oceanians and Southeast Asians. Finally, we map biomedically relevant variants across Oceania and Southeast Asia, observing pronounced allele-frequency differences between population groups. Together, these findings refine models of oceanic settlement and admixture and establish a comprehensive reference that will advance global efforts to ensure broad and equitable representation in human genomics.