Ancient Diversity, Modern Science: Revealing the Genomic Heritage of Indigenous Australians

9 February 2024

In 2023, NCIG reached an important milestone in genomic research with the publication of two important studies in the prestigious Nature journal. These studies represent a major stride in understanding the genetic diversity of Indigenous communities.  

Employing the latest DNA sequencing technologies and advanced data analysis methods, this research brought together teams from multiple institutions. This collaborative effort using data from the NCIG Collection was dedicated to unravelling the complex genetic landscape of four Indigenous communities, comparing their genetic diversity with other global populations.  

The findings of these studies are profound: up to 25% of the genetic variation identified in these Indigenous communities is unique to Indigenous Australians. The discovery and genomic resources created through both studies carries significant implications for a multitude of health aspects: (1) these genomic resources will be critical in diagnosing rare diseases for Indigenous families, (2) provide a foundation for understanding genetic basis of complex diseases and (3) improve our understanding of the human biology. Both studies lay a critical foundation for ongoing research efforts. The aim is to ensure that the rich genetic diversity of Indigenous Australians is comprehensively represented and effectively utilised in advancing genomics driven healthcare. This research underscores our commitment to equitable research practices and the delivery of tangible health benefits to Indigenous communities.

Indigenous Australian genomes show deep structure and rich novel variation

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

Published in Nature, Volume 624, 13 December 2023 

A plain English summary of this article (PDF 141KB)

The landscape of genomic structural variation in Indigenous Australians 

Andre L. M. Reis, Melissa Rapadas, Jillian M. Hammond, Hasindu Gamaarachchi, Igor Stevanovski, Meutia Ayuputeri Kumaheri, Sanjog R. Chintalaphani, Duminda S. B. Dissanayake, Owen M. Siggs, Alex W. Hewitt, Bastien Llamas, Alex Brown, Gareth Baynam, Graham J. Mann, Brendan J. McMorran, Simon Easteal, Azure Hermes, Misty R. Jenkins, The National Centre for Indigenous Genomics, Hardip R. Patel &  Ira W. Deveson 

Published in Nature, Volume 624, 13 December 2023 

A plain English summary of this article (PDF 130KB)