Ancient human genome sequence of an extinct Palaeo-Eskimo

By M. Rasmussen, Yingrui Li, Stinus Lindgreen, Jakob Skou Pedersen, Anders Albrechtsen, Ida Moltke, M. Metspalu, E. Metspalu, T. Kivisild, Ramneek Gupta and 45 more. Nature, 2010

818 citations recorded by the source corpus.

We report here the genome sequence of an ancient human. Obtained from ∼4,000-year-old permafrost-preserved hair, the genome represents a male individual from the first known culture to settle in Greenland. Sequenced to an average depth of 20×, we recover 79% of the diploid genome, an amount close to the practical limit of current sequencing technologies. We identify 353,151 high-confidence single-nucleotide polymorphisms (SNPs), of which 6.8% have not been reported previously. We estimate raw read contamination to be no higher than 0.8%. We use functional SNP assessment to assign possible phenotypic characteristics of the individual that belonged to a culture whose location has yielded only trace human remains. We compare the high-confidence SNPs to those of contemporary populations to find the populations most closely related to the individual. This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/0877bf6e5d0eedcdeb3adc83fa1f22dcf359376a

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

In Molecular Biology

Citations in the corpus

Characterization of ancient and modern genomes by SNP detection and phylogenomic and metagenomic analysis using PALEOMIX (2014, background): “The massive throughput of Illumina platforms subsequently enabled the sequencing of the first ancient human genome at 20× coverage by using hair shafts preserved in Greenland for ~4,000 years 13 .”
From the field to the laboratory: Controlling DNA contamination in human ancient DNA research in the high-throughput sequencing era (2017, neutral): “Hair samples are rare, but provide a valuable source of aDNA (Rasmussen et al. 2010; Bengtsson et al. 2012; Llamas et al. 2016).”
Estimating Individual Admixture Proportions from Next Generation Sequencing Data (2013, methodology): “This has successfully been used to describe the genetics of different populations (Rosenberg et al. 2002) and even extinct populations (Rasmussen et al. 2010).”
Complete mitochondrial genome sequence of a Middle Pleistocene cave bear reconstructed from ultrashort DNA fragments (2013, methodology): “PCR primers were designed by using Primer3 (14) and the published U.”
Learning about human population history from ancient and modern genomes (2011, background): “jpg"/> The year 2010 saw the publication of the first three ancient hominid nuclear genome sequence”
Reconstructing Native American Population History (2012, background): “2 Rasmussen M. et al. Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature 463, 757-762 (2010). 3 International HapMap 3 Consortium. Integrating common and rare genetic variation in diverse human populations. Nature 467, 52-58 (2010). 4 Li J.Z. et al. Worldwide human relationships infer”
ANGSD: Analysis of Next Generation Sequencing Data (2014, neutral): “Contamination estimates based on the X-chromosomes BC [19]b”
Comparative performance of the BGISEQ-500 vs Illumina HiSeq2500 sequencing platforms for palaeogenomic sequencing (2017, neutral): “Today, therefore, Illumina-based sequencing has formed the basis of the overwhelming majority of palaeogenomic studies, including (but not limited to) draft genomes of humans [20] and related hominids [21–24], animals [9, 25–28], plants [29–31] and”