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Record W2090819968 · doi:10.1038/ncomms1701

New insights into the Tyrolean Iceman's origin and phenotype as inferred by whole-genome sequencing

2012· article· en· W2090819968 on OpenAlexaff
Andreas Keller, Angela Graefen, Markus Ball, Mark Matzas, Valesca Boisguérin, Frank Maixner, Petra Leidinger, Christina Backes, Rabab Khairat, Michael Förster, Björn Stade, André Franke, Jessica Spangler, Stephen McLaughlin, Minita Shah, Clarence Lee, Timothy T. Harkins, Alexander Sartori, Andrés Moreno‐Estrada, Brenna M. Henn, Martin Sikora, Ornella Semino, Jacques Chiaroni, Siiri Rootsi, Natalie M. Myres, Vicente M. Cabrera, Peter A. Underhill, Carlos D. Bustamante, Eduard Egarter Vigl, Marco Samadelli, Giovanna Cipollini, Jan Haas, Hugo A. Katus, Brian D. O’Connor, Marc Carlson, Benjamin Meder, Nikolaus Blin, Eckart Meese, Carsten M. Pusch, Albert Zink

Bibliographic record

VenueNature Communications · 2012
Typearticle
Languageen
FieldImmunology and Microbiology
TopicVector-borne infectious diseases
Canadian institutionsOntario Institute for Cancer Research
FundersEesti TeadusfondiNational Institutes of HealthDeutscher Akademischer AustauschdienstNational Geographic SocietyNational Science Foundation
KeywordsBiologyGenomeGeneticsWhole genome sequencingEvolutionary biologySequence (biology)ConcordanceGene

Abstract

fetched live from OpenAlex

The Tyrolean Iceman, a 5,300-year-old Copper age individual, was discovered in 1991 on the Tisenjoch Pass in the Italian part of the Ötztal Alps. Here we report the complete genome sequence of the Iceman and show 100% concordance between the previously reported mitochondrial genome sequence and the consensus sequence generated from our genomic data. We present indications for recent common ancestry between the Iceman and present-day inhabitants of the Tyrrhenian Sea, that the Iceman probably had brown eyes, belonged to blood group O and was lactose intolerant. His genetic predisposition shows an increased risk for coronary heart disease and may have contributed to the development of previously reported vascular calcifications. Sequences corresponding to ∼60% of the genome of Borrelia burgdorferi are indicative of the earliest human case of infection with the pathogen for Lyme borreliosis. The Tyrolean Iceman is 5,300 years old and his mitochondrial genome has been previously sequenced. This study reports the full genome sequence of the Iceman and reveals that he probably had brown eyes, was at risk for coronary disease and may have been infected with the pathogen Lyme borreliosis.

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)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.005

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0010.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.017
GPT teacher head0.282
Teacher spread0.265 · 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 designBench or experimental
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

Citations462
Published2012
Admission routes1
Has abstractyes

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Same venueNature CommunicationsSame topicVector-borne infectious diseasesFrench-language works237,207