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Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome
Fotis Tsetsos, Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos, Zeynep Tümer, Renata Rizzo, Andreas Hartmann, Christel Depienne, Yulia Worbe, Kirsten Müller‐Vahl, Daniëlle C. Cath, Dorret I. Boomsma, Tomasz Wolańczyk, Cezary Żekanowski, Csaba Barta, Zsófia Nemoda, Zsanett Tárnok, Shanmukha Sampath Padmanabhuni, Joseph D. Buxbaum, Dorothy E. Grice, Jeffrey Glennon, Hreinn Stefánsson, Bastian Hengerer, Evangelia Yannaki, J Stamatoyannopoulos, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Pablo Mir, Ástrid Morer, Norbert Mueller, Alexander Münchau, Kerstin Jessica Plessen, Cesare Porcelli, Veit Roessner, Susanne Walitza, Anette Schrag, Davide Martino, Cathy L. Barr, James R. Batterson, Cheston M. Berlin, Cathy L. Budman, Giovanni Coppola, Nancy J. Cox, Sabrina M. Darrow, Yves Dion, Nelson B. Freimer, Marco A. Grados, Erica Greenberg, Matthew E. Hirschtritt, Alden Y. Huang, Cornelia Illmann, Robert A. King, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. McMahon, Benjamin M. Neale, Michael S. Okun, Lisa Osiecki, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae Hoon Sul, Christos Androutsos, Entela Basha, Luca Farkas, Jakub Fichna, Piotr Janik, M. Kapisyzi, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Natalia Szejko, Urszula Szymańska, Vaia Tsironi, Alan Apter, Juliane Ball, Benjamin Bodmer, Emese Bognár, Judith Buse, Marta Correa Vela, Carolin Fremer, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Marcos Madruga-Garrido, Alessandra Pellico, Daphna Ruhrman, Jaana Schnell, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Victoria Turner, Elif Weidinger, John J. Alexander, Tamás Arányi, Wim Buisman, Jan K. Buitelaar, Nicole N. Driessen, Petros Drineas, Siyan Fan, Natalie J. Forde, Sarah Gerasch, Odile A. van den Heuvel, Cathrine Jespersgaard, Ahmad S. Kanaan, Harald E. Möller, Muhammad Sulaman Nawaz, Ester Nespoli, Luca Pagliaroli, Geert Poelmans, Petra J. W. Pouwels, Francesca Romana Rizzo, Dick J. Veltman, Ysbrand D. van der Werf, Joanna Widomska, Nuno R. Zilhäo, Lawrence W. Brown, Keun‐Ah Cheon, Barbara Coffey, Thomas V. Fernandez, Donald L. Gilbert, Hyun Ju Hong, Laura Ibanez-Gomez, Eunjoo Kim, Young Key Kim, Young-Shin Kim, Robert A. King, Yun‐Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett Leventhal, Athanasios Maras, Tara Murphy, Eun-Young Shin, Dong‐Ho Song, Jungeun Song, Matthew W. State, Frank Visscher, Sheng Wang, Samuel H. Zinner, Jay A. Tischfield, Gary A. Heiman, A. Jeremy Willsey, Andrea Dietrich, Lea K. Davis, James J. Crowley, Carol A. Mathews, Jeremiah M. Scharf, Marianthi Georgitsi, Pieter J. Hoekstra, Peristera Paschou
Bibliographic record
VenueBiological Psychiatry · 2023
Typereview
Languageen
FieldPsychology
TopicObsessive-Compulsive Spectrum Disorders
Canadian institutionsUniversity of Calgary
FundersFP7 HealthFP7 People: Marie-Curie ActionsWeill Institute for Neurosciences, University of California, San FranciscoNational Institute of Mental HealthEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentEuropean Regional Development FundInstituto de Salud Carlos IIINational Institutes of HealthDystonia Medical Research Foundation CanadaManchester Biomedical Research CentreConsejería de Salud y Bienestar Social, Junta de AndalucíaIpsenH. Lundbeck A/SEmberi Eroforrások MinisztériumaNational Institute of Neurological Disorders and StrokeNational Institute for Health and Care ResearchMinisterio de Ciencia e InnovaciónMagyar Tudományos AkadémiaDeutsche ForschungsgemeinschaftNational Science FoundationJunta de AndalucíaParkinson CanadaTourette Association of AmericaLundbeckfondenSemmelweis Egyetem
KeywordsGenome-wide association studyTourette syndromeLocus (genetics)Genetic associationBiologyGenetic architectureGeneticsHeritabilityNeurodevelopmental disorderQuantitative trait locusNeuroscienceGeneSingle-nucleotide polymorphismPsychologyPsychiatryGenotype
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)0.000
metaresearch head score (Gemma)0.001
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: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.003
Threshold uncertainty score0.009
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.001 |
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 head0.056
GPT teacher head0.384
Teacher spread0.328 · 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
GenreReview
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
Citations31
Published2023
Admission routes2
Has abstractno