The rationale for this project is the unrepresentative nature of the human reference genome, which has a strong African and European bias. The aim is to de novo assemble genomes from Indigenous Australians and assess how well these mitigate the bias. At the same time, we will assess whether multiple references are justified because of the genomic differences between communities in different parts of the country.
Four genome assemblies from people in four communities have been assembled and analysis so far indicates the differences between communities justify the use of multiple, regional reference genomes.
This work is funded by a NHMRC Project grant.