Indigenous Australian genomes show deep population structure and abundant novel variation

Special Judith and David Coffey Seminar

Please note that this is an online and In-person event.

In-person venue: Seminar Room 1.2 Level 1, Charles Perkins Centre

Zoom: https://uni-sydney.zoom.us/j/84087321707

Speaker: Prof Stephen Leslie (The University of Melbourne)

Abstract: Without the inclusion of diverse genetic ancestries in reference resources, inequity in research and clinical practice risks being entrenched. A handful ethnicities have been the focus of genomic research to date, and Indigenous Australians are virtually absent from global reference panels and genomic analyses. The National Centre for Indigenous Genomics (NCIG) has collected genomic data from four Indigenous Australian communities from distinct regions of Australia.  This is the largest sample of Indigenous Australian whole genomes to date, made possible by careful engagement and consultation with the communities, setting new standards for best practice in Indigenous research. In this talk I will show analyses of the genomes of 159 individuals from these four communities, investigating patterns of genetic variation and diversity within this dataset, as well as the causes and consequences of these patterns. 

We discover substantial uncharacterised genetic variation in Indigenous Australians when compared to worldwide populations, with implications for the utility of global reference panels and databases for conducting research within these communities.  We show the variation is shaped by exceptionally strong population structure across Australia and explore its features and the factors that have caused such structure. Our analysis emphasizes the distinctiveness of Indigenous Australians in a worldwide context with consequences for the design and implementation of genomic research and clinical practice in Indigenous communities.  

About the speaker: Prof. Stephen Leslie is a statistician working in the field of mathematical genetics.  He is currently Professor of Statistical Genomics in the School of Mathematics and Statistics, and Melbourne Integrative Genomics, at the University of Melbourne.  Stephen has made key contributions to detecting, understanding, and controlling for population differences in genetic data, including his landmark papers on fine-scale population genetic differentiation in the UK, and more recently for Indigenous Australians.  He also developed the first methods for typing HLA and KIR alleles (major immune-associated gene families) from SNP data, making these important variants available for large datasets world-wide, including as part of the main data release for the UK Biobank.  Stephen has won several major awards for his work including the Woodward Medal of the University of Melbourne, and the Moran Medal of the Australian Academy of Science.

Stephen’s research focuses on understanding the association of population genetic variation and history/demography; uncovering the relationship of immune-associated loci and autoimmune disease; and performing statistically rigorous analyses of the relationship of genetic variants to disease.