This project investigates how much genomic variation there is Indigenous communities, how it compares with populations in other parts of the world and communities in other parts of Australia, and how much is variation likely to affect health.

Genome sequences from 160 individuals from four communities have been analysed to date.  Approximately 25% of all DNA variants in the genomes studied are unknown in people from outside Australia and it remains to be investigated how many of these Indigenous-specific variants are associated with health and disease.  Interestingly, of the Indigenous-specific variants, approximately 40% are likely to be found in a single region or community.  Using information about people from the Northern Territory, for example, as a basis for treating people in South Western Australia would be equivalent to treating people in the United Kingdom based on information about people from Cambodia.

This work is funded by BioPlatforms Australia.