Population Genomics Showcase stage at NCM 2023 Singapore

Large-scale projects developing perpetual community resources 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, establishes genomic reference resources and biospecimen collection from 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 four Indigenous communities since 2015, whereby 684 individuals have donated their genomic data and biological samples to the growing NCIG collection. We have begun generating telomere-to-telomere reference genomes for these four communities leveraging Oxford Nanopore technology and other sequencing platforms. Indigenous reference genomes reveal >2 Mb of new sequences. Similarly, whole-genome sequence data from 163 individuals using Illumina short reads and nanopore long reads show distinct genetic diversity missing from global resources. Of 17 million short variants, ~22% of variants are found only in Indigenous Australians and between 10 - 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.