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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Christian R. Marshall, Daniel P. Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S. Greer, Danny Antaki, Aniket Shetty, Peter Holmans, Dalila Pinto, Madhusudan Gujral, William M. Brandler, Dheeraj Malhotra, Zhouzhi Wang, Karin V. Fuentes Fajarado, Michelle S. Maile, Stephan Ripke, Ingrid Agartz, Margot Albus, Madeline Alexander, Farooq Amin, Joshua Atkins, Silviu‐Alin Bacanu, Richard A. Belliveau, Sarah E. Bergen, Marcelo Bertalan, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, Brendan Bulik‐Sullivan, William Byerley, Wiepke Cahn, Guiqing Cai, Murray J. Cairns, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberley D. Chambert, Wei Cheng, C. Robert Cloninger, David Cohen, Paul Cormican, Nick Craddock, Benedicto Crespo‐Facorro, David Curtis, Michael Davidson, Kenneth L. Davis, Franziska Degenhardt, Jurgen Del‐Favero, Lynn E. DeLisi, Dimitris Dikeos, Timothy G. Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Peter Eichhammer, Johan G. Eriksson, Valentina Escott‐Price, Laurent Essioux, Ayman H. Fanous, Kai-How Farh, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Joseph I. Friedman, Andreas J. Forstner, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Elliot S. Gershon, Ina Giegling, Paola Giusti‐Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Jacob Gratten, Lieuwe de Haan, Marian L. Hamshere, Thomas Folkmann Hansen, Vahram Haroutunian, Annette M. Hartmann, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Hailiang Huang, Masashi Ikeda, Inge Joa, Anna K. Kähler, René S. Kahn, Luba Kalaydjieva, Juha Karjalainen, David Kavanagh, Matthew C. Keller, Brian Kelly, James L. Kennedy, Yunjung Kim, James A. Knowles, Bettina Konte, Claudine Laurent, Phil Lee, Sang Lee, Sophie E. Legge, Bernard Lerer, Deborah L. Levy, Kung‐Yee Liang, Jeffrey A. Lieberman, Jouko Lönnqvist, Carmel M. Loughland, Patrik K. E. Magnusson, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Andrew M. McIntosh, Sandra Meier, Carin J. Meijer, Ingrid Melle, Raquelle I. Mesholam‐Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W. Morris, Bertram Müller‐Myhsok, Kieran C. Murphy, Robin Murray, Inez Myin‐Germeys, Igor Nenadić, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Laura Nisenbaum, Annelie Nordin, Eadbhard O’Callaghan, Colm Ó'Dúshláine, Sang-Yun Oh, Ann Olincy, Line Olsen, F. Anthony O’Neill, Jim van Os, Christos Pantelis, George N. Papadimitriou, Elena Parkhomenko, Michele T. Pato, Tiina Paunio, Diana O. Perkins, Tune H. Pers, Olli Pietiläinen, Jonathan Pimm, Andrew Pocklington, John Powell, Alkes L. Price, Ann E. Pulver, Shaun Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Alan R. Sanders, Adam Savitz, Ulrich Schall, Thomas G. Schulze, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Jianxin Shi, Jeremy M. Silverman, Jordan W. Smoller, Erik Söderman, Chris C. A. Spencer, Eli A. Stahl, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Jaana Suvisaari, Dragan M. Švrakić, Jin Szatkiewicz, Srinivas Thirumalai, Paul A. Tooney, Juha Veijola, Peter M. Visscher, John L. Waddington, Dermot Walsh, Bradley T. Webb, Mark Weiser, Dieter B. Wildenauer, Nigel Williams, Stephanie Williams, Stephanie H. Witt, Aaron R. Wolen, Brandon K. Wormley, Naomi R. Wray, Jing Wu, Clement C. Zai, Rolf Adolfsson, Ole A. Andreassen, Douglas Blackwood, Elvira Bramon, Joseph D. Buxbaum, Sven Cichon, David Collier, Aiden Corvin, Mark J. Daly, Ariel Darvasi, Enrico Domenici, Tõnu Esko, Pablo V. Gejman, Michael Gill, Hugh Gurling, Christina M. Hultman, Nakao Iwata, Assen Jablensky, Erik G. Jönsson, Kenneth S. Kendler, George Kirov, Jo Knight, Douglas F. Levinson, Qingqin S. Li, Steven A. McCarroll, Andrew McQuillin, Jennifer L. Moran, Bryan Mowry, Markus M. Nöthen, Roel A. Ophoff, Michael J. Owen, Aarno Palotie, Carlos N. Pato, Tracey L. Petryshen, Daniëlle Posthuma, Marcella Rietschel, Brien P. Riley, Dan Rujescu, Pamela Sklar, David St Clair, James Walters, Thomas Werge, Patrick F. Sullivan, Michael O‘Donovan, Stephen W. Scherer, Benjamin M. Neale, Jonathan Sebat
Bibliographic record
VenueNature Genetics · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsUniversity of TorontoCentre for Addiction and Mental HealthHospital for Sick Children
FundersNational Human Genome Research InstituteStanley Center for Psychiatric Research, Broad InstituteNational Institute of Mental HealthMedical Research CouncilNational Institute for Health and Care ResearchLundbeckfondenWellcome Trust
KeywordsBiologyCopy-number variationGeneticsSchizophrenia (object-oriented programming)GenomeGenome-wide association studyComputational biologyGeneSingle-nucleotide polymorphismPsychiatryGenotypePsychology
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 score0.011
Threshold uncertainty score0.023
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) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 head0.005
GPT teacher head0.231
Teacher spread0.226 · 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
Citations1,142
Published2016
Admission routes1
Has abstractno