NCM 2022: A long-read nanopore sequencing platform for Indigenous genomics

Indigenous Australians harbour rich and unique genetic diversity that is currently missing from global genomics resources, which limits their suitability for the interpretation of genetic disease in Indigenous families. Failure to address this representation gap will lead to increasing inequity in the benefit of genomic medicine, exacerbating health disparities between Australia's Indigenous and non-Indigenous communities. In addition, most population-scale catalogues of genetic variation have relied on short-read sequencing technologies, which largely limits their scope to small variants (SNVs and indels) within simple, non-repetitive genome regions. To address these issues, we are using population-scale Oxford Nanopore long-read sequencing to build a detailed catalogue of repetitive, structural, and complex genetic variation across Australian Indigenous communities, in partnership with the National Centre for Indigenous Genomics. To date, we have performed whole-genome nanopore sequencing on 68 individuals from four Indigenous communities in Northern Australia and a non-Indigenous comparison cohort. We are using this data to explore the unique genetic variation among Indigenous Australians at unprecedented resolution and create genomics resources that will be critical to achieving equitable outcomes in genomic medicine in Australia.