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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
John R. B. Perry, Felix R. Day, Cathy E. Elks, Patrick Sulem, Deborah J. Thompson, Teresa Ferreira, Chunyan He, Daniel I. Chasman, Tõnu Esko, Guðmar Þorleifsson, Eva Albrecht, Wei Ang, Tanguy Corre, Diana L. Cousminer, Bjarke Feenstra, Nora Franceschini, Andrea Ganna, Andrew D. Johnson, Sanela Kjellqvist, Kathryn L. Lunetta, George McMahon, Ilja M. Nolte, Lavinia Paternoster, Eleonora Porcu, Albert V. Smith, Lisette Stolk, Alexander Teumer, Natalia Tšernikova, Emmi Tikkanen, Sheila Ulivi, Erin K. Wagner, Najaf Amin, Laura J. Bierut, Enda M. Byrne, Jouke‐Jan Hottenga, Daniel L. Koller, Massimo Mangino, Tune H. Pers, Laura M. Yerges-Armstrong, Jing Hua Zhao, Irene L. Andrulis, Hoda Anton‐Culver, Femke Atsma, Stefania Bandinelli, Matthias W. Beckmann, Javier Benı́tez, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Bernardo Bonanni, Hiltrud Brauch, Hermann Brenner, Julie E. Buring, Jenny Chang‐Claude, Stephen J. Chanock, Jinhui Chen, Georgia Chenevix‐Trench, J. Margriet Collée, Fergus J. Couch, David Couper, Andrea D. Coviello, Angela Cox, Kamila Czene, Pio D’Adamo, George Davey Smith, Immaculata De Vivo, Ellen W. Demerath, Joe Dennis, Peter Devilee, Aida Karina Dieffenbach, Alison M. Dunning, Guðný Eiríksdóttir, Johan G. Eriksson, Peter A. Fasching, Luigi Ferrucci, Dieter Flesch‐Janys, Henrik Flyger, Tatiana Foroud, Lude Franke, Melissa E. Garcia, Montserrat García‐Closas, Frank Geller, Eco J. C. de Geus, Graham G. Giles, Daníel F. Guðbjartsson, Vilmundur Guðnason, Pascal Guénel, Suiqun Guo, Per Hall, Ute Hamann, Robin Haring, Catharina A. Hartman, Andrew C. Heath, Albert Hofman, Maartje J. Hooning, John L. Hopper, Frank B. Hu, David J. Hunter, David Karasik, Douglas P. Kiel, Julia A. Knight, Veli-Matti Kosma, Zoltán Kutalik, Sandra Lai, Diether Lambrechts, Annika Lindblom, Reedik Mägi, Patrik K. E. Magnusson, Nicholas G. Martin, Gísli Másson, Patrick F. McArdle, Wendy L. McArdle, Mads Melbye, Kyriaki Michailidou, Evelin Mihailov, Lili Milani, Roger L. Milne, Heli Nevanlinna, Patrick Neven, Ellen A. Nøhr, Albertine J. Oldehinkel, Ben A. Oostra, Aarno Palotie, Munro Peacock, Nancy L. Pedersen, Paolo Peterlongo, Julian Peto, Paul D.P. Pharoah, Dirkje S. Postma, Anneli Pouta, Katri Pylkäs, Paolo Radice, Susan M. Ring, Fernando Rivadeneira, Antonietta Robino, Lynda M. Rose, Anja Rudolph, Veikko Salomaa, Serena Sanna, David Schlessinger, Marjanka K. Schmidt, Melissa C. Southey, Ulla Sovio, Meir J. Stampfer, Doris Stöckl, Anna Maria Storniolo, Nicholas J. Timpson, Jonathan P. Tyrer, Jenny A. Visser, Péter Vollenweider, Henry Völzke, Gérard Waeber, Mélanie Waldenberger, Henri Wallaschofski, Qin Wang, Gonneke Willemsen, Robert Winqvist, Bruce H. R. Wolffenbuttel, Margaret J. Wright, Dorret I. Boomsma, Michael J. Econs, Kay‐Tee Khaw, Ruth J. F. Loos, Mark I. McCarthy, Grant W. Montgomery, John P. Rice, Elizabeth A. Streeten, Unnur Þorsteinsdóttir, Cornelia M. van Duijn, Behrooz Z. Alizadeh, Sven Bergmann, Eric Boerwinkle, Heather A. Boyd, Laura Crisponi, Paolo Gasparini, Christian Gieger, Tamara B. Harris, Erik Ingelsson, Marjo‐Riitta Järvelin, Peter Kraft, Debbie A. Lawlor, Andres Metspalu, Craig E. Pennell, Paul M. Ridker, Harold Snieder, Thorkild I. A. Sørensen, Tim D. Spector, David P. Strachan, André G. Uitterlinden, Nicholas J. Wareham, Elisabeth Widén, Marek Zygmunt, Anna Murray, Douglas F. Easton, Kāri Stefánsson, Joanne M. Murabito, Ken K. Ong
Bibliographic record
VenueNature · 2014
Typearticle
Languageen
FieldMedicine
TopicGrowth Hormone and Insulin-like Growth Factors
Canadian institutionsLunenfeld-Tanenbaum Research InstitutePublic Health OntarioUniversity of TorontoMount Sinai Hospital
FundersNational Cancer InstituteNational Institute on AgingDet Sundhedsvidenskabelige Fakultet, Københavns UniversitetMedical Research CouncilNational Institute of Neurological Disorders and StrokeNational Institute for Health and Care ResearchNovo NordiskNovo Nordisk Foundation Center for Basic Metabolic ResearchUppsala UniversitetFaculty of Health and Medical Sciences, University of Western AustraliaTerveyden ja hyvinvoinnin laitosScience for Life LaboratoryCancer Research UKBiocenter, University of OuluOulun YliopistoNational Center for Advancing Translational SciencesWellcome TrustSchool of Medicine, Boston University
KeywordsMenarcheAlleleGeneticsBiologyEvolutionary biologyGene
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 score0.025
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.007 | 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 head0.030
GPT teacher head0.289
Teacher spread0.259 · 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
Citations659
Published2014
Admission routes1
Has abstractno