title: Reference genotype and exome data from an Australian Aboriginal population for health-based research.
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.
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia 6008, Australia.
authors.forename: Dave
authors.initials: D
authors.lastname: Tang
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia 6008, Australia.
authors.forename: Denise
authors.initials: D
authors.lastname: Anderson
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia 6008, Australia.
authors.forename: Richard W
authors.identifier: http://orcid.org/0000-0003-1580-7934
authors.initials: RW
authors.lastname: Francis
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia 6008, Australia.
authors.forename: Genevieve
authors.initials: G
authors.lastname: Syn
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia 6008, Australia.
authors.forename: Sarra E
authors.initials: SE
authors.lastname: Jamieson
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia 6008, Australia.
authors.forename: Timo
authors.initials: T
authors.lastname: Lassmann
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia 6008, Australia.
authors.forename: Jenefer M
authors.initials: JM
authors.lastname: Blackwell
mesh_terms: D001315:Australia; D001483:Base Sequence; D059472:Exome; D015894:Genome, Human; D055106:Genome-Wide Association Study; D023281:Genomics; D006801:Humans; D054643:INDEL Mutation; D020641:Polymorphism, Single Nucleotide