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Record W4322766075 · doi:10.1038/s41562-023-01541-9

Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence

2023· article· en· W4322766075 on OpenAlexafffund
Jakub Kopál, Kuldeep Kumar, Karin Saltoun, Claudia Modenato, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Martineau Jean‐Louis, Charles-Olivier Martin, Zohra Saci, Nadine Younis, Petra Tamer, Élise Douard, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Leila Kushan, Ana Isabel Silva, Marianne B. M. van den Bree, David E.J. Linden, Michael J. Owen, Jérémy Hall, Sarah Lippé, Bogdan Draganski, Ida E. Sønderby, Ole A. Andreassen, David C. Glahn, Paul M. Thompson, Carrie E. Bearden, Sébastien Jacquemont, Danilo Bzdok

Bibliographic record

VenueNature Human Behaviour · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsMontreal Neurological Institute and HospitalUniversité de MontréalMcGill UniversityCentre Hospitalier Universitaire Sainte-JustineMila - Quebec Artificial Intelligence Institute
FundersNational Institute of Biomedical Imaging and BioengineeringNational Institute of Mental HealthNational Institute on AgingHelse Sør-Øst RHFMedical Research CouncilHealth CanadaNational Institute on Drug AbuseInstitut de Valorisation des DonnéesCentre Hospitalier Universitaire VaudoisNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungCanada First Research Excellence FundCanadian Institute for Advanced ResearchNorges ForskningsrådSimons Foundation Autism Research InitiativeCanadian Institutes of Health ResearchCompute CanadaHealth and Care Research WalesWellcome TrustEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentEuropean CommissionFondation Brain Canada
KeywordsPhenomeCopy-number variationBiologyPhenotypePleiotropyBiobankGeneticsNeuroscienceEvolutionary biologyGenomeGene

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.123
Threshold uncertainty score0.635

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 integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.008
GPT teacher head0.255
Teacher spread0.246 · 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 teacher head, 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

Citations28
Published2023
Admission routes2
Has abstractno

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