ArticleScientific data2016
Reference genotype and exome data from an Australian Aboriginal population for health-based research.
Article in Scientific data, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Genomic landscape of the Great Steppe: Genetic variants in healthy Kazakh individuals.Scientific data · 2025Article
- Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2021Article
- A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.Human mutation · 2021Article
- Reference exome data for Australian Aboriginal populations to support health-based research.Scientific data · 2020Article
- Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity.Nature immunology · 2019Article
- Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy.Scientific reports · 2019Article
- Whole-exome sequencing data of suicide victims who had suffered from major depressive disorder.Scientific data · 2019Article
- Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.Scientific reports · 2018Article
- Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.American journal of human genetics · 2018Article
- Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.Clinical and translational science · 2018Review
- Population Stratification in Genetic Association Studies.Current protocols in human genetics · 2017Review
- The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Orphanet journal of rare diseases · 2016Article
- Publishing descriptions of non-public clinical datasets: proposed guidance for researchers, repositories, editors and funding organisations.Research integrity and peer review · 2016Article
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7 authors.
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Abstract
Genetic analyses, including genome-wide association studies and whole exome sequencing (WES), provide powerful tools for the analysis of complex and rare genetic diseases. To date there are no 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 72 Aboriginal individuals to a depth of 20X coverage in ∼80% of the sequenced nucleotides. We determined 320,976 single nucleotide variants (SNVs) and 47,313 insertions/deletions using the Genome Analysis Toolkit. We had previously genotyped a subset of the Aboriginal individuals (70/72) using the Illumina Omni2.5 BeadChip platform and found ~99% concordance at overlapping sites, which suggests high quality genotyping. Finally, we compared our SNVs to six publicly available variant databases, such as dbSNP and the Exome Sequencing Project, and 70,115 of our SNVs did not overlap any of the single nucleotide polymorphic sites in all the databases. Our data set provides a useful reference point for genomic studies on Aboriginal Australians.
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