Here we present Aboriginal Australian (Homo sapiens) genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. The nuclear genome was sequenced to an overall depth of 6.4-fold. It had a high degree of fragmentation, but no genotype level evidence of sample contamination by DNA from sample handlers of European descent was detected. Over 2 million SNPs were identified after genome mapping and genotyping, approximately 6 percent of which were not previously reported. The mitochondrial genome (mtDNA) was sequenced to an average depth of 338x and found to belong to a new subclade of haplogroup O.

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Read the peer-reviewed publication(s):

Rasmussen, M., Guo, X., Wang, Y., Lohmueller, K. E., Rasmussen, S., Albrechtsen, A., … Jombart, T. (2011). An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia. Science, 334(6052), 94–98. doi:10.1126/science.1211177 (PubMed: 21940856)

Accessions (data included in GigaDB):

SRA: SRP006388

Sample IDTaxonomic IDCommon NameGenbank NameScientific NameSample Attributes
SRS1888119606HumanhumanHomo sapiens Geographic location (country and/or sea,region):Australia, south-western australia
Description:lock of hair donated by an Aboriginal man living in South-Western Australia in the early 20th century. The genome was sequenced to an average depth of 11x, showing no evidence of European admixture, and an estimated contamination level of & lt 0.5%. It represents the first high-depth ancient genome sequence from outside the permafrost regions. Using population genetic approaches based on whole genome data, we find evidence that: i) all non-African populations diverged from West Africans at the same time ii) Aboriginal Australians were the first to separate from this ancestral non-African gene pool some 50-60 thousand ago, 10-25 thousand prior to the split between Europeans and Asians iii) Aboriginal Australians received substantial gene flow from Asians at a later date, suggesting that the Neanderthal genetic signal in the Aboriginal Australian genome, similar to that found in Eurasians, may be secondarily derived. Our findings imply that current views on the population history of Aboriginal Australian based on uniparental markers and SNP chip data are over simplistic
Displaying 1-1 of 1 Sample(s).

File NameSample IDData TypeFile FormatSizeRelease Date 
SAMPLE:SRS188811Genome sequenceFASTQ2.52 GB2011-11-12
SAMPLE:SRS188811SNPsVCF915.18 KB2011-11-12
SAMPLE:SRS188811Genome sequenceFASTQ5.59 GB2011-11-12
SAMPLE:SRS188811SNPsVCF84.34 MB2011-11-12
SAMPLE:SRS188811SNPsVCF94.74 MB2011-11-12
SAMPLE:SRS188811SNPsVCF359.84 MB2011-11-12
SAMPLE:SRS188811Genome sequenceFASTQ6.85 GB2011-11-12
SAMPLE:SRS188811SNPsVCF8.97 MB2011-11-12
SAMPLE:SRS188811SNPsVCF248.09 MB2011-11-12
SAMPLE:SRS188811Genome sequenceFASTQ4.4 GB2011-11-12
Displaying 1-10 of 188 File(s).
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