The Human Genomic Landscape of Oceania
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.
Cite
@article{arxiv.2405.09216,
title = {The Human Genomic Landscape of Oceania},
author = {Consuelo D. Quinto-Cortés and Carmina Barberena Jonas and Peter A. Gerlach and Sofía Vieyra-Sánchez and Ram González-Buenfil and Petria R. Russell and Stephen Oppenheimer and Kathryn Auckland and Kathryn Robson and Tom Parks and Julian R. Homburger and Alissa L. Severson and Genevieve L. Wojcik and J. Víctor Moreno-Mayar and Javier Blanco-Portillo and Karla Sandoval and Ishwar Verma and Abdul Salam M. Sofro and Frederick Delfin and Maria Corazon A. De Ungria and George Koki and George Aho and Jonathan S. Friedlaender and Francoise Friedlaender and Angela Allen and Stephen Allen and Adrian V. S. Hill and Toomas Kivisild and Phillip Endicott and Matthew Spriggs and Mark Stoneking and Carlos D. Bustamante and Maude Phipps and William Pomat and Alexander J. Mentzer and Andrés Moreno-Estrada and Alexander G. Ioannidis},
journal= {arXiv preprint arXiv:2405.09216},
year = {2026}
}