Reference genotype and exome data from an Australian Aboriginal population for health-based research

• DOI: 10.1038/sdata.2016.23
• Publication Date: 2016-04-11T14:29:29Z
• Authors: Dave Tang; Denise Anderson; Richard W. Francis; Genevieve Syn; Sarra E. Jamieson; Timo Lassmann; Jenefer M. Blackwell
• Keywords: dbSNP; Exome; 1000 Genomes Project; Concordance; International HapMap Project

Genetic analyses, including genome-wide association studies and whole exome sequencing (WES), provide powerful tools for the analysis of complex rare genetic diseases. To date there are no reference data Aboriginal Australians to underpin translation health-based genomic research. Here we a catalogue variants called after exomes 72 individuals depth 20X coverage in ∼80% sequenced nucleotides. We determined 320,976 single nucleotide (SNVs) 47,313 insertions/deletions using Genome Analysis Toolkit. had previously genotyped subset (70/72) Illumina Omni2.5 BeadChip platform found ~99% concordance at overlapping sites, which suggests high quality genotyping. Finally, compared our SNVs six publicly available variant databases, such as dbSNP Exome Sequencing Project, 70,115 did not overlap any polymorphic sites all databases. Our set provides useful point on Australians.