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Reference exome data for Australian Aboriginal populations to support health-based research

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posted on 22.04.2021, 02:16 by Alexia L Weeks, Heather A D'Antoine, Melita McKinnon, Genevieve Syn, Dawn Bessarab, Ngiare Brown, Steven YC Tong, Bo Remenyi, Andrew Steer, Lesley-Ann Gray, Michael InouyeMichael Inouye, Jonathan R Carapetis, Jenefer M Blackwell, Timo Lassmann
Whole exome sequencing (WES) is a popular and successful technology which is widely used in both research and clinical settings. However, there is a paucity of reference data for Aboriginal Australians to underpin the translation of health-based genomic research. Here we provide a catalogue of variants called after sequencing the exomes of 50 Aboriginal individuals from the Northern Territory (NT) of Australia and compare these to 72 previously published exomes from a Western Australian (WA) population of Martu origin. Sequence data for both NT and WA samples were processed using an ‘intersect-then-combine’ (ITC) approach, using GATK and SAMtools to call variants. A total of 289,829 variants were identified in at least one individual in the NT cohort and 248,374 variants in at least one individual in the WA cohort. Of these, 166,719 variants were present in both cohorts, whilst 123,110 variants were private to the NT cohort and 81,655 were private to the WA cohort. Our data set provides a useful reference point for genomic studies on Aboriginal Australians.


We acknowledge all investigators of these studies, the project teams including the local Aboriginal Health services, community-based researchers, the communities, agencies, and all the participants for their invaluable contribution to this project. The work was funded by grants APP634301 and APP1023462 from the Australian National Health and Medical Research Council to J.M.B. and J.R.C., respectively.


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