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Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study
Lauren M. McGrath, Dongmei Yu, Christian Marshall, Lea K. Davis, Bhooma Thiruvahindrapuram, Bingbin Li, Carolina Cappi, Gloria F. Gerber, Aaron B. Wolf, Frederick A. Schroeder, Lisa Osiecki, Colm O’Dushlaine, Andrew Kirby, Cornelia Illmann, Stephen A. Haddad, Patience Gallagher, Jesen Fagerness, Cathy L. Barr, Laura Bellodi, Fortu Benarroch, O. Joseph Bienvenu, Donald W. Black, Michael H. Bloch, Ruth D. Bruun, Cathy L. Budman, Beatríz Camarena, Daniëlle C. Cath, Maria Cristina Cavallini, Sylvain Chouinard, Vladimir Coric, Bernadette Cullen, Richard Delorme, Damiaan Denys, Eske M. Derks, Yves Dion, Maria Conceição do Rosário, Patrick Evans, Peter Falkai, Thomas Fernandez, Helena Garrido, Daniel Geller, Hans J. Grabe, Marco A. Grados, Benjamin D. Greenberg, Varda Gross‐Tsur, Edna Grünblatt, Gary A. Heiman, Sian Hemmings, Luis Diego Herrera, Ana Gabriela Hounie, Joseph Jankovic, James L. Kennedy, Robert A. King, Roger Kurlan, Nuria Lanzagorta, Marion Leboyer, James F. Leckman, Leonhard Lennertz, Christine Löchner, Thomas L. Lowe, Gholson J. Lyon, Fabìo Macciardi, Wolfgang Maier, James T. McCracken, William McMahon, Dennis L. Murphy, Allan L. Naarden, Benjamin M. Neale, Erika L. Nurmi, A.J. Pakstis, Michele T. Pato, Carlos N. Pato, John Piacentini, Christopher Pittenger, Yehuda Pollak, Victor I. Reus, Margaret A. Richter, Mark A. Riddle, Mary M. Robertson, David Rosenberg, Guy A. Rouleau, Stephan Ruhrmann, Aline S. Sampaio, Jack Samuels, Paul Sandor, Brooke Sheppard, Harvey S. Singer, Jan Smit, Dan J. Stein, Jay A. Tischfield, Homero Vallada, Jeremy Veenstra‐VanderWeele, Susanne Walitza, Ying Wang, Jens R. Wendland, Yin Yao Shugart, Eurı́pedes Constantino Miguel, Humberto Nicolini, Ben A. Oostra, Rainald Moessner, Michael Wagner, Andrés Ruiz‐Linares, Peter Heutink, Gerald Nestadt, Nelson B. Freimer, Tracey L. Petryshen, Daniëlle Posthuma, Michael A. Jenike, Nancy J. Cox, Gregory L. Hanna, Helena Brentani, Stephen W. Scherer, Paul Arnold, S. Evelyn Stewart, Carol A. Mathews, James A. Knowles, Edwin H. Cook, David L. Pauls, Kai Wang, Jeremiah M. Scharf
Bibliographic record
VenueJournal of the American Academy of Child & Adolescent Psychiatry · 2014
Typearticle
Languageen
FieldPsychology
TopicObsessive-Compulsive Spectrum Disorders
Canadian institutionsVancouver General HospitalSunnybrook HospitalUniversity Health NetworkHealth Sciences CentreSunnybrook Health Science CentreCentre for Addiction and Mental HealthHospital for Sick ChildrenUniversité de MontréalMontreal Neurological Institute and HospitalUniversity of TorontoToronto Western HospitalUniversity of British Columbia
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Center for Advancing Translational SciencesNational Institute of Neurological Disorders and StrokeNational Cancer InstituteNational Human Genome Research InstituteNational Institute on Drug AbuseNational Institute of Mental HealthNational Institute on Alcohol Abuse and AlcoholismCanadian Institutes of Health ResearchPfizer PharmaceuticalsSeventh Framework ProgrammeH. Lundbeck A/SUniversity of British ColumbiaNovartisOntario Mental Health FoundationJGW Patterson FoundationBundesministerium für Bildung und ForschungTuberous Sclerosis AssociationGlaxoSmithKlineConselho Nacional de Desenvolvimento Científico e TecnológicoGovernment of OntarioNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungShireAstraZenecaMichael Smith Health Research BCInternational OCD FoundationChild and Family Research InstituteJohns Hopkins UniversityKlingenstein Third Generation FoundationRocheDeutsche ForschungsgemeinschaftChildren’s Hospital of Michigan FoundationSimons Foundation
KeywordsCopy-number variationTourette syndromeNeurodevelopmental disorderTic disorderEtiologyLocus (genetics)AutismGenome-wide association studyAutism spectrum disorderSchizophrenia (object-oriented programming)Obsessive compulsiveGeneticsPsychologyPsychiatryBiologyGenomeSingle-nucleotide polymorphismGeneGenotype
Abstract
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 imitationNot 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 score0.007
Threshold uncertainty score0.015
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.003 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
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 head0.006
GPT teacher head0.303
Teacher spread0.297 · 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 itClassification
machine, unvalidatedMachine 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
Citations143
Published2014
Admission routes2
Has abstractno