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Record W2138198688 · doi:10.1038/mp.2012.69

Genome-wide association study of Tourette's syndrome

2012· article· en· W2138198688 on OpenAlexaff
Jeremiah M. Scharf, Dongmei Yu, Carol A. Mathews, Benjamin M. Neale, S. Evelyn Stewart, Jesen Fagerness, Patrick Evans, Eric R. Gamazon, Christopher K. Edlund, Susan K. Service, А. А. Тихомиров, Lisa Osiecki, Caroline Illmann, Anna Pluzhnikov, Anuar Konkashbaev, Lea K. Davis, Buhm Han, Jacquelyn Crane, Priya Moorjani, Andrew Crenshaw, Melissa Parkin, Victor I. Reus, Trevor Lowe, Martha Rangel‐Lugo, Sylvain Chouinard, Yves Dion, Simon Girard, Daniëlle C. Cath, Jan Smit, Robert A. King, Thomas Fernandez, James F. Leckman, Kenneth K. Kídd, J.R. Kidd, A.J. Pakstis, Matthew W. State, Luis Diego Herrera, Roberto Romero, Eduardo Fournier, Paul Sandor, Cathy L. Barr, N. Phan, Varda Gross‐Tsur, Fortu Benarroch, Yehuda Pollak, Cathy L. Budman, Ruth D. Bruun, Gerald Erenberg, Allan L. Naarden, Paul C. Lee, Noel S. Weiss, Bárbara Kremeyer, Gabriel Bedoya Berrío, Desmond Campbell, Julio César Cardona Silgado, William Cornejo Ochoa, Sandra Catalina Mesa Restrepo, Hans‐Helge Müller, Ana V. Valencia Duarte, Gholson J. Lyon, M. Leppert, J. Morgan, Robert B. Weiss, Marco A. Grados, Kari Anderson, Shekar Davarya, Harvey S. Singer, John T. Walkup, Joseph Jankovic, Jay A. Tischfield, Gary A. Heiman, Donald L. Gilbert, Pieter J. Hoekstra, Mary M. Robertson, Roger Kurlan, Chunyu Liu, J. Raphael Gibbs, Andrew B. Singleton, John Hardy, E Strengman, Roel A. Ophoff, Michael Wagner, R. Moessner, Daniel B. Mirel, Daniëlle Posthuma, C. Sabatti, Eleazar Eskin, D V Conti, James A. Knowles, Andrés Ruiz‐Linares, Guy A. Rouleau, Shaun Purcell, Peter Heutink, Ben A. Oostra, William M. McMahon, Nelson B. Freimer, Nancy J. Cox, David L. Pauls

Bibliographic record

VenueMolecular Psychiatry · 2012
Typearticle
Languageen
FieldPsychology
TopicObsessive-Compulsive Spectrum Disorders
Canadian institutionsUniversity Health NetworkUniversité de Montréal
FundersUCB PharmaNational Center for Research ResourcesNational Institute of Neurological Disorders and StrokeNational Cancer InstituteNational Institute on Drug AbuseNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteNational Institute on AgingParkinsonfondenU.S. Department of Health and Human ServicesSt. Jude MedicalEMD SeronoUniversity of OxfordGenentechIpsenH. Lundbeck A/SKing's College LondonMedical Research CouncilTeva Pharmaceutical IndustriesDiana Helis Henry Medical Research FoundationMissouri Department of Health and Senior ServicesJohns Hopkins UniversityPsyadon PharmaceuticalsBroad InstituteNational Parkinson FoundationPfizerUniversity of RochesterState of New Jersey Department of HealthNational Human Genome Research InstituteMerz PharmaceuticalsNational Institute on Alcohol Abuse and AlcoholismUniversity of EdinburghEli Lilly and CompanyAllerganNational Institutes of Health
KeywordsGenome-wide association studyTourette syndromeImputation (statistics)GeneticsGenetic associationPopulationBiologyGenome1000 Genomes ProjectMedicineSingle-nucleotide polymorphismPsychiatryGeneGenotypeEnvironmental healthMissing data

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 score0.015
Threshold uncertainty score0.030

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0000.001
Bibliometrics0.0010.002
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0010.001
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 head0.006
GPT teacher head0.264
Teacher spread0.258 · 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

Citations215
Published2012
Admission routes1
Has abstractno

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