A new Yale-led study provides one of the most detailed and comprehensive analyses to date of genetic variation in human populations in Oceania, filling a major gap in representation in genomics research.
Despite harboring remarkable diversity, populations in this vast region in the South Pacific historically have been overlooked in global human genetic studies, which have often focused largely on peoples of European descent, researchers say.
"The drastic underrepresentation of Oceanians limits our understanding of human evolution and could exacerbate health inequalities as genomic research is used to develop novel medical treatments" said the lead author Serena Tucci, assistant professor of anthropology in Yale's Faculty of Arts and Sciences and the principal investigator of the Yale Human Evolutionary Genomics Laboratory. "To fill that gap, my research team embarked on a large-scale project to expand what is known about human genetic variation, including genetic variants inherited from extinct hominins."
The study, published on June 11 in the journal Science, shows how the genes that ancient humans acquired after mating with extinct hominins continue to shape the biology, health, and survival of our species today.
For the study, the research team sequenced the genomes of 177 individuals across 12 distinct populations in different parts of Near Oceania - the southwestern portion of the Pacific region that includes Papua New Guinea, the Bismarck Archipelago, and the Solomon Islands - and analyzed them alongside a massive dataset of 1,284 previously published genomes from individuals worldwide.
