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

Measurement(s)Aboriginal Australian center dot DNA center dot sequence feature annotationTechnology Type(s)Whole Exome Sequencing center dot DNA sequencing center dot sequence annotationFactor Type(s)ancestry center dot sex center dot ageSample Characteristic - OrganismHomo sapiensSample Characteristic - LocationNorthern Territory Machine-accessible metadata file describing the reported data: 10.6084/m9.figshare.12040638 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.