MétaCan
Menu
Back to cohort
Record W4295932668 · doi:10.1101/2022.09.12.22279764

Gene copy number variation in pediatric mental illness in a general population

2022· preprint· en· W4295932668 on OpenAlexafffund
Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edward J. Higginbotham, John Wei, Sabah Shaikh, Nicole M. Roslin, Jeffrey R. MacDonald, Giovanna Pellecchia, Thomas Nalpathamkalam, Sylvia Lamoureux, Roozbeh Manshaei, Jennifer Howe, Brett Trost, Bhooma Thiruvahindrapuram, Christian R. Marshall, Ryan K. C. Yuen, Richard F. Wintle, Lisa J. Strug, Dimitri J. Stavropoulos, Jacob Vorstman, Paul Arnold, Daniele Merico, Marc Woodbury‐Smith, Jennifer Crosbie, Russell Schachar, Stephen W. Scherer

Bibliographic record

VenuemedRxiv · 2022
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsOntario GenomicsHospital for Sick ChildrenPublic Health OntarioSickKids FoundationUniversity of TorontoUniversity of CalgaryTed Rogers Centre for Heart Research
FundersMedical Research CouncilAlberta InnovatesHospital for Sick ChildrenUniversity of TorontoCanadian Institutes of Health ResearchGenome CanadaSick Kids FoundationUniversity of BristolAlberta Innovates - Health SolutionsGovernment of Ontario
KeywordsCopy-number variationMental healthPopulationPsychiatryOdds ratioOddsMental illnessCognitionClinical psychologyPsychologyMedicineGeneticsGeneBiologyInternal medicineGenomeEnvironmental health

Abstract

fetched live from OpenAlex

Abstract We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognitive biomarkers in a community sample of 7,100 unrelated European, and East Asian children and youth (Spit for Science). Diagnoses of mental health disorders were found in 17.5% of participants and 27.6% scored in the highest 10% on either or both ADHD and OCD trait measures. Clinically relevant CNVs were present in 3.9% of participants and were associated with elevated scores on a continuous measure of ADHD ( p =5.0×10 −3 ), on a cognitive biomarker of mental health (response inhibition ( p =1.0×10 −2 )), and on prevalence of mental disorders ( p =1.9×10 −6 , odds ratio: 3.09). With a rise of mental illness, our data establishes a baseline for delineating genetic contributors in paediatric-onset conditions. One Sentence Summary Copy number variation predicts neurodevelopmental and mental health phenotypes in the general population.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

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)0.000
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 score0.003
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.000

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 head0.245
Teacher spread0.237 · 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

Citations0
Published2022
Admission routes2
Has abstractyes

Explore more

Same venuemedRxivSame topicGenomic variations and chromosomal abnormalitiesFrench-language works237,207