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Record W2096791516 · doi:10.1038/nature11632

An integrated map of genetic variation from 1,092 human genomes

2012· article· en· W2096791516 on OpenAlexaff
Gil McVean, Robert E. Handsaker, Mark A. DePristo, Richard Durbin, Gonçalo R. Abecasis, Jin Yu, Gábor Marth, Adam Auton

Bibliographic record

VenueNature · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsSimon Fraser UniversityCentre Hospitalier Universitaire Sainte-JustineMcGill UniversityMcGill University and Génome Québec Innovation Centre
FundersNational Center for Research ResourcesNational Institute of Allergy and Infectious DiseasesNational Institute of General Medical SciencesNational Cancer InstituteNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteNational High-tech Research and Development ProgramWellcome TrustBiotechnology and Biological Sciences Research CouncilNational Institute of Environmental Health SciencesGuangdong Province Introduction of Innovative R&D TeamGovernment of Jiangxi ProvinceBundesministerium für Bildung und ForschungMax-Planck-GesellschaftSamsungHoward Hughes Medical InstituteNational Natural Science Foundation of ChinaDirectorate for Biological SciencesNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNational Human Genome Research InstituteNederlandse Organisatie voor Wetenschappelijk OnderzoekNational Key Research and Development Program of ChinaU.S. National Library of MedicineBritish Heart FoundationNational Institute on Minority Health and Health DisparitiesDeutsche ForschungsgemeinschaftNational Center for Advancing Translational SciencesMedical Research CouncilMinistero dello Sviluppo EconomicoNational Science Foundation
KeywordsVariation (astronomy)Human genetic variationHuman genomeGenetic variationGenomeEvolutionary biologyBiologyGeneticsGene

Abstract

fetched live from OpenAlex

OpenAlex records an abstract for this work, but it could not be fetched just now.

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)0.001
metaresearch head score (Gemma)0.003
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: none
Teacher disagreement score0.011
Threshold uncertainty score0.022

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.003
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0040.007
Science and technology studies0.0010.000
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0060.002

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 head0.008
GPT teacher head0.273
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 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

Citations8,218
Published2012
Admission routes1
Has abstractyes

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