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Record W4306856269 · doi:10.1016/j.rasd.2022.102055

Copy-number variants in the contactin-5 gene are a potential risk factor for autism spectrum disorder

2022· article· en· W4306856269 on OpenAlexafffund
Zoe Schmilovich, Guillaume Huguet, Qin He, Amélie Musa-Johnson, Élise Douard, Mor Absa Loum, Calwing Liao, Jay P. Ross, Alexandre Dionne‐Laporte, Dan Spiegelman, Martineau Jean‐Louis, Zohra Saci, Caroline Hayward, Tobias Banaschewski, Arun L.W. Bokde, Sylvane Desrivières, Hervé Lemaître, Günter Schumann, Lan Xiong, Patrick A. Dion, Sébastien Jacquemont, Boris Chaumette, Guy A. Rouleau

Bibliographic record

VenueResearch in autism spectrum disorders · 2022
Typearticle
Languageen
FieldNeuroscience
TopicAutism Spectrum Disorder Research
Canadian institutionsUniversité de MontréalCentre Hospitalier Universitaire Sainte-JustineInstitut Universitaire en Santé Mentale de QuébecMcGill UniversityMontreal Neurological Institute and Hospital
FundersHorizon 2020Medical Research Council CanadaMedical Research CouncilInstitut National de la Santé et de la Recherche MédicaleFonds de Recherche du Québec - SantéChief Scientist Office, Scottish Government Health and Social Care DirectorateUniversité Paris-SudFédération pour la Recherche sur le CerveauFondation pour la Recherche MédicaleDeutsche ForschungsgemeinschaftKing’s College LondonScottish Funding CouncilFondation de FranceBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchUniversity of EdinburghFondation de l'Avenir pour la Recherche Médicale AppliquéeWellcome TrustFondation Bettencourt SchuellerFondation Jean-Louis LévesqueCanadian Institutes of Health ResearchCompute CanadaSouth London and Maudsley NHS Foundation TrustNational Institutes of Health
KeywordsCopy-number variationAutism spectrum disorderAutismCohortPsychologyGeneticsCandidate genePsychiatryGeneMedicineBiologyInternal medicineGenome

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)0.005
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Science and technology studies, Research integrity, Insufficient payload (model declined to judge)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: Theoretical or conceptual
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.232
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0050.001
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0020.006
Science and technology studies0.0030.001
Scholarly communication0.0010.001
Open science0.0040.002
Research integrity0.0000.006
Insufficient payload (model declined to judge)0.0050.000

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 head0.049
GPT teacher head0.349
Teacher spread0.300 · 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.

Study designTheoretical or conceptual
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

Citations3
Published2022
Admission routes2
Has abstractno

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