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Record W3121115799 · doi:10.1038/s41380-020-00985-z

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability

2021· article· en· W3121115799 on OpenAlexafffund
Guillaume Huguet, Catherine Schramm, Élise Douard, Petra Tamer, Antoine Main, Pauline Monin, Jade England, Khadijé Jizi, Thomas Renne, Myriam Poirier, Sabrina Nowak, Charles-Olivier Martin, Nadine Younis, Inga Sophia Knoth, Martineau Jean‐Louis, Zohra Saci, Maude Auger, Frédérique Tihy, Géraldine Mathonnet, Catalina Maftei, France Léveillé, David J. Porteous, Gail Davies, Paul Redmond, Sarah E. Harris, W. David Hill, Emmanuelle Lemyre, Thomas Bourgeron, Zdenka Pausová, Tomáš Paus, Sherif Karama, Sarah Lippé, Ian J. Deary, Laura Almasy, Aurélie Labbe, David C. Glahn, Celia M.T. Greenwood, Sébastien Jacquemont

Bibliographic record

VenueMolecular Psychiatry · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsMcGill University Health CentreMcGill UniversityDouglas Mental Health University InstituteHospital for Sick ChildrenMontreal Neurological Institute and HospitalSickKids FoundationUniversity of TorontoHEC MontréalJewish General HospitalUniversité de MontréalCentre Hospitalier Universitaire Sainte-Justine
FundersMedical Research CouncilNational Science FoundationCanadian Institutes of Health ResearchCompute CanadaNational Institute of Mental HealthHeart and Stroke Foundation of CanadaHospital for Sick ChildrenWellcome TrustInstitut de Valorisation des DonnéesFondation Brain CanadaNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungAutism Speaks
KeywordsHaploinsufficiencyCopy-number variationGeneticsGeneAutismCognitionBiologyGenomeHuman geneticsGene dosagePsychologyPhenotypeDevelopmental psychologyGene expressionNeuroscience

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

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.

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)0.002
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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.002
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.009
GPT teacher head0.235
Teacher spread0.226 · 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

Citations67
Published2021
Admission routes2
Has abstractno

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Same venueMolecular PsychiatrySame topicGenomic variations and chromosomal abnormalitiesFrench-language works237,207