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Reference exome data for Australian Aboriginal populations to support health-based research.
Weeks, Alexia L; D'Antoine, Heather A; McKinnon, Melita; Syn, Genevieve; Bessarab, Dawn; Brown, Ngiare; Tong, Steven Y C; Reményi, Bo; Steer, Andrew; Gray, Lesley-Ann; Inouye, Michael; Carapetis, Jonathan R; Blackwell, Jenefer M; Lassmann, Timo.
Affiliation
  • Weeks AL; Telethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Perth, Western Australia, Australia.
  • D'Antoine HA; Menzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.
  • McKinnon M; Menzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.
  • Syn G; Telethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Perth, Western Australia, Australia.
  • Bessarab D; Centre for Aboriginal Medical and Dental Health, The University of Western Australia, Crawley, Western, Australia.
  • Brown N; School of Education, The University of Wollongong, New South Wales, Australia.
  • Tong SYC; Menzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.
  • Reményi B; Victorian Infectious Disease Service, The Royal Melbourne Hospital, and Doherty Department, The University of Melbourne, at the Peter Doherty Institute for Infection and Immunity, Victoria, Australia.
  • Steer A; Menzies School of Health Research, Charles Darwin University, Darwin, Northern Territory, Australia.
  • Gray LA; Group A Streptococcal Research Group, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia and Centre for International Child Health, Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Inouye M; Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia.
  • Carapetis JR; Department of Public Health and Primary Care, The University of Cambridge, Cambridge, UK.
  • Blackwell JM; Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia.
  • Lassmann T; Department of Public Health and Primary Care, The University of Cambridge, Cambridge, UK.
Sci Data ; 7(1): 129, 2020 04 29.
Article in En | MEDLINE | ID: mdl-32350262
ABSTRACT
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.
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Full text: 1 Database: MEDLINE Main subject: Native Hawaiian or Other Pacific Islander / Exome Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Oceania Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Native Hawaiian or Other Pacific Islander / Exome Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Country/Region as subject: Oceania Language: En Year: 2020 Type: Article