Indigenous Australian genomes show deep structure and rich novel variation

The National Centre for Indigenous Genomics, Matthew Silcocks, Ashley Farlow, Azure Hermes, Georgia Tsambos, Hardip R. Patel, Sharon Huebner, Gareth Baynam, Misty R. Jenkins, Damjan Vukcevic, Simon Easteal, Stephen Leslie

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama–Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation. We observe exceptionally strong population structure across Australia, driven by divergence times between communities of 26,000–35,000 years ago and long-term low but stable effective population sizes. This demographic history, including early divergence from Papua New Guinean (47,000 years ago) and Eurasian groups1, has generated the highest proportion of previously undescribed genetic variation seen outside Africa and the most extended homozygosity compared with global samples. A substantial proportion of this variation is not observed in global reference panels or clinical datasets, and variation with predicted functional consequence is more likely to be homozygous than in other populations, with consequent implications for medical genomics2. Our results show that Indigenous Australians are not a single homogeneous genetic group and their genetic relationship with the peoples of New Guinea is not uniform. These patterns imply that the full breadth of Indigenous Australian genetic diversity remains uncharacterized, potentially limiting genomic medicine and equitable healthcare for Indigenous Australians.

Original languageEnglish
Pages (from-to)593-601
Number of pages9
Issue number7992
Early online date13 Dec 2023
Publication statusPublished - 21 Dec 2023


Dive into the research topics of 'Indigenous Australian genomes show deep structure and rich novel variation'. Together they form a unique fingerprint.

Cite this