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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

2010· article· en· 560 citations· W2005710199 on OpenAlex· 10.1038/nature08727

Why is this work in the frame?

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

Canadian affiliationAn author listed a Canadian institution. This is the only route the usual frame has.
Canadian funderA Canadian agency funded it. The work may carry no Canadian affiliation at all.

Full frame distilled prediction

Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

Candidate categories
none
Consensus categories
none
Domain
Candidate signal: noneConsensus signal: none
Study design
Candidate signal: Bench or experimentalConsensus signal: Bench or experimental
Genre
Candidate signal: EmpiricalConsensus signal: Empirical
Teacher disagreement score
0.218
Threshold uncertainty score
0.505
Validation status
machine_predicted_unvalidated · codex-gemma-dda1882f352a

Codex and Gemma teacher scores by category

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

Machine scores (provisional)

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

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.

Opus teacher head0.004
GPT teacher head0.219
Teacher spread
0.215 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Abstract

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

The record

Venue
Nature
Topic
Genomic variations and chromosomal abnormalities
Field
Biochemistry, Genetics and Molecular Biology
Canadian institutions
McGill UniversityMcGill University and Génome Québec Innovation Centre
Funders
National Heart, Lung, and Blood InstituteEuropean Regional Development FundSocialstyrelsenNational Institutes of HealthFédération Française de CardiologieAssociation Diabète Risque VasculaireJeanssons StiftelserUniversité de LausanneVetenskapsrådetLudwig Institute for Cancer ResearchIsrael Science FoundationNational Institute of Mental HealthVINNOVAStiftelsen för Strategisk ForskningResearch Councils UKMedical Research CouncilLes Laboratories Pierre FabreWellcome TrustInstitut National de la Santé et de la Recherche MédicaleFondation de FranceNovo NordiskNational Institute for Health and Care ResearchDirection de l’hospitalisation et de l’offre de SoinsEli Lilly and CompanyGenome CanadaÅke Wiberg StiftelseOulun YliopistoNovartis PharmaEuropean CommissionBiocenter, University of OuluSanofiGlaxoSmithKline
Keywords
Missing heritability problemGeneticsBiologyObesityPenetranceGenome-wide association studyCopy-number variationHeritabilityPopulationGenetic heterogeneitySingle-nucleotide polymorphismPhenotypeBioinformaticsGeneMedicineGenotypeGenomeEndocrinology
Has abstract in OpenAlex
no