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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Guðmar Þorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B.A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández‐Aranda, José Manuel Fernández‐Real, Mónica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo‐Riitta Järvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. van Haelst, Faida Walha, Bai-Lin Wu, Yongguo Yu, Azzedine Aboura, Marie‐Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoı̂t Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Béri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiésa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean‐Marie Cuisset, J. Cuvellier, Albert David, Bénédicte de Fréminville, Bruno Delobel, Marie‐Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Vittoria Disciglio, Martine Doco‐Fenzy, Séverine Drunat, Bénédicte Duban‐Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gérard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna‐Liisa Hartikainen, Delphine Héron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez‐Múrcia, Géraldine Joly Helas, Philippe Jonveaux, Satu Kaksonen, Boris Keren, Anita Kloss‐Brandstätter, Nine Knoers, David A. Koolen, Peter M. Kroisel, Florian Kronenberg, Audrey Labalme, Emilie Landais, Elisabetta Lapi, Valérie Layet, Solenn Legallic, Bruno Leheup, Barbara Leube, M. E. Suzanne Lewis, Josette Lucas, Kay MacDermot, Páll Magnússon, Christian Marshall, Michèle Mathieu‐Dramard, Mark I. McCarthy, Thomas Meitinger, Maria Antonietta Mencarelli, Giuseppe Merla, Alexandre Moerman, Vincent Mooser, Fanny Morice‐Picard, Mafalda Mucciolo, Matthias Nauck, Ndeye Coumba Ndiaye, Ann Nordgren, Laurent Pasquier, Florence Petit, Rolph Pfundt, Ghislaine Plessis, Evica Rajcan‐Separovic, Gian Paolo Ramelli, Anita Rauch, Roberto Ravazzolo, André Reis, Alessandra Renieri, Cristóbal Richart, Janina S. Ried, Claudine Rieubland, Wendy Roberts, Katharina M. Roetzer, Caroline Rooryck, Massimiliano Rossi, Evald Sæmundsen, Véronique Satre, Claudia Schurmann, Engilbert Sigurðsson, Dimitri J. Stavropoulos, Hreinn Stefánsson, Carola Tengström, Unnur Þorsteinsdóttir, Francisco J. Tinahones, Renaud Touraine, Louis Vallée, Ellen van Binsbergen, Nathalie Van der Aa, Catherine Vincent‐Delorme, Sophie Visvikis‐Siest, Péter Vollenweider, Henry Völzke, Anneke T. Vulto‐van Silfhout, Gérard Waeber, Carina Wallgren‐Pettersson, Robert M. Witwicki, Simon Zwolinksi, Joris Andrieux, Xavier Estivill, James F. Gusella, Ómar Gústafsson, Andres Metspalu, Stephen W. Scherer, Kāri Stefánsson, Alexandra I. F. Blakemore, J. Beckmann, Philippe Froguel
Bibliographic record
VenueNature · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomic variations and chromosomal abnormalities
Canadian institutionsUniversity of TorontoSickKids FoundationUniversity of British ColumbiaHospital for Sick ChildrenChild and Family Research InstituteMemorial University of Newfoundland
FundersNational Institute of General Medical SciencesNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteInstituto de Salud Carlos IIICanadian Institutes of Health ResearchNational Institutes of HealthMedical Research CouncilHersenstichtingHospital for Sick ChildrenOesterreichische NationalbankUniversité de LausanneFudan UniversityUniversity of TorontoSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungEuropean CommissionImperial College Healthcare NHS TrustWellcome TrustMichael Smith Health Research BCLudwig Institute for Cancer ResearchNational Science FoundationGlaxoSmithKlineImperial College LondonCentro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y NutriciónBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchFondation LeenaardsFondation Jérôme LejeuneDirection de l’hospitalisation et de l’offre de SoinsGenome CanadaMünchner Zentrum für GesundheitswissenschaftenVlaamse regeringFonds De La Recherche Scientifique - FNRSAutism Speaks
KeywordsUnderweightFailure to thriveBody mass indexObesityMedicinePopulationIntellectual disabilityGene duplicationEating disordersLocus (genetics)GeneticsAnorexia nervosaPediatricsInternal medicineBiologyPsychiatryGeneOverweight
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)0.000
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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.015
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 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 head0.015
GPT teacher head0.203
Teacher spread0.189 · 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
Citations480
Published2011
Admission routes2
Has abstractno