National Centre for Indigenous Genomics creating reference resources for Indigenous Australians.

Hosted by: Professor Elizabeth Gardiner

Abstract

Large-scale projects developing perpetual community resources, such as the UK Biobank, 1000 Genome Project, and the Human PanGenome Reference, play an increasingly important role in biomedical research and precision medicine. The National Centre for Indigenous Genomics (NCIG), under the Indigenous governance backed by Australian federal statutory powers, is establishing genomic reference resources and biospecimen collection for Indigenous Australians. NCIG is an example of a community resource built to enable broad-scale representation of ancestrally diverse populations for equitable benefits of genomics for all humans. NCIG has established deeply trusted relationships with Indigenous communities since 2015, whereby 684 individuals have donated their genomic data and biological samples to the growing NCIG Collection.

We have begun generating reference genomes leading to telomere-2-telomere assemblies for these four communities. Similarly, whole-genome sequence data from 160 individuals using Illumina short reads and ONT long reads show distinct genetic diversity missing from global resources. We have discovered ~160000 structural variations (>50bp long, at least 12% new) and ~9.9 million SNVs (34% new) in Indigenous genomes. Importantly, between 10% and 31% of variants are found only in a single community due to the prolonged isolation from each other and global populations. The unique genetic diversity of Indigenous Australia warrants modifications to the genomic analysis and interpretation workflows to improve research and health outcomes. NCIG continues to expand its genomic reference resources by including more communities and integrating these resources into clinical services and healthcare through national networks.

Biography

Dr Hardip Patel is the Bioinformatics Lead at the National Centre for Indigenous Genomics (NCIG) of the John Curtin School of Medical Research. He is a genomics and bioinformatics expert with over 55 co-authored publications encompassing topics in genome assembly, comparative genomics, molecular biology and genetics of human health and diseases. As Bioinformatics Lead for the NCIG, Dr Patel leads the construction of telomere-2-telomere reference genomes and population variation maps for Indigenous Australians. His research focuses on improving our understanding of the evolutionary mode and tempo of complex structural variations in the human genome and their implications for human health.