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Record W2135016593 · doi:10.1038/nature08835

Ancient human genome sequence of an extinct Palaeo-Eskimo

2010· article· en· W2135016593 on OpenAlexaboutno aff
Morten Rasmussen, Yingrui Li, Stinus Lindgreen, Jakob Skou Pedersen, Anders Albrechtsen, Ida Moltke, Mait Metspalu, Ene Metspalu, Toomas Kivisild, Ramneek Gupta, Marcelo Bertalan, Kasper Nielsen, M. Thomas P. Gilbert, Yong Wang, Maanasa Raghavan, Paula F. Campos, Hanne Munkholm Kamp, A. S. Wilson, Andrew Gledhill, Silvana R. Tridico, Michael Bunce, Eline D. Lorenzen, Jonas Binladen, Xiaosen Guo, Jing Zhao, Xiuqing Zhang, Hao Zhang, Zhuo Li, Minfeng Chen, Ludovic Orlando, Karsten Kristiansen, Mads Bak, Niels Tommerup, Christian Bendixen, Tracey L. Pierre, Bjarne Grønnow, Morten Meldgaard, Claus Andreasen, С.А. Федорова, L. P. Osipova, Thomas Higham, Christopher Bronk Ramsey, Thomas van Overeem Hansen, Finn Cilius Nielsen, Michael H. Crawford, Søren Brunak, Thomas Sicheritz‐Pontén, Richard Villems, Rasmus Nielsen, Anders Krogh, Jun Wang, Eske Willerslev

Bibliographic record

VenueNature · 2010
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicForensic and Genetic Research
Canadian institutionsnot available
FundersStrategic Research CouncilDanish Agency for Science and Higher EducationAustralian Research CouncilNatural Environment Research CouncilForsknings- og InnovationsstyrelsenH. Lundbeck A/SNational Science FoundationDanmarks Frie ForskningsfondNational Human Genome Research InstituteDanmarks Tekniske UniversitetNovo NordiskNovo Nordisk FondenEesti TeadusfondiNational Natural Science Foundation of ChinaNational Research FoundationSight Research UKDanmarks GrundforskningsfondLundbeckfonden
KeywordsAncient DNAHuman genomeGenomeSingle-nucleotide polymorphismBiologyEvolutionary biologySNPSequence (biology)GeneticsGenePopulationDemographyGenotype

Abstract

fetched live from OpenAlex

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. For the first time, the sequence of a near-complete nuclear genome has been obtained from the tissue of an ancient human. It comes from permafrost-preserved hair, about 4,000 years old, of a male palaeo-Eskimo of the Saqqaq culture, the earliest known settlers in Greenland. Functional single-nucleotide polymorphism (SNP) assessment was used to assign possible phenotypic characteristics. The analysis provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of the migration that gave rise to the modern Native Americans and Inuit. Elsewhere in the issue we profile the paper's last author Eske Willerslev, who headed the project and found the lock of hair in a Copenhagen museum basement — after a fruitless search among the archaeological sites of Peary Land. The first genome sequence of an ancient human is reported. It comes from an approximately 4,000-year-old permafrost-preserved hair from a male from the first known culture to settle in Greenland. Functional single-nucleotide polymorphism (SNP) assessment is used to assign possible phenotypic characteristics and high-confidence SNPs are compared to those of contemporary populations to find those most closely related to the individual.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.001
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.007
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.011
GPT teacher head0.319
Teacher spread0.309 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations868
Published2010
Admission routes1
Has abstractyes

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