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Record W2161998322 · doi:10.1038/nature09410

Hundreds of variants clustered in genomic loci and biological pathways affect human height

2010· article· en· W2161998322 on OpenAlexaff
Hana Lango Allen, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, Anne Jackson, Sailaja Vedantam, Soumya Raychaudhuri, Teresa Ferreira, Andrew R. Wood, Robert J. Weyant, Ayellet V. Segrè, Elizabeth K. Speliotes, Eleanor Wheeler, Nicole Soranzo, Ju‐Hyun Park, Jian Yang, Daníel F. Guðbjartsson, Nancy L. Heard‐Costa, Joshua C. Randall, Lu Qi, Albert V. Smith, Reedik Mägi, Tomi Pastinen, Liming Liang, Iris M. Heid, Jian’an Luan, Guðmar Þorleifsson, Thomas W. Winkler, Michael E. Goddard, Ken Sin Lo, Cameron D. Palmer, Tsegaselassie Workalemahu, Yurii S. Aulchenko, Åsa Johansson, M. Carola Zillikens, Mary F. Feitosa, Tõnu Esko, Toby Johnson, Shamika Ketkar, Peter Kraft, Massimo Mangino, Inga Prokopenko, Devin Absher, Eva Albrecht, Florian Ernst, Nicole L. Glazer, Caroline Hayward, Jouke‐Jan Hottenga, Kevin B. Jacobs, Joshua W. Knowles, Zoltán Kutalik, Keri L. Monda, Ozren Polašek, Michael Preuß, Nigel W. Rayner, Neil R. Robertson, Valgerður Steinthórsdóttir, Jonathan P. Tyrer, Benjamin F. Voight, Fredrik Wiklund, Jianfeng Xu, Wei Zhao, Dale R. Nyholt, Niina Pellikka, Markus Perola, John R. B. Perry, Ida Surakka, Mari‐Liis Tammesoo, Elizabeth L. Altmaier, Najaf Amin, Thor Aspelund, Tushar Bhangale, Gabrielle Boucher, Daniel I. Chasman, Constance Chen, Lachlan Coin, Matthew N. Cooper, Anna Dixon, Quince Gibson, Elin Grundberg, Ke Hao, Juhani Junttila, Lee M. Kaplan, Johannes Kettunen, Inke R. König, Tony Kwan, Robert Lawrence, Douglas F. Levinson, Mattias Lorentzon, Barbara McKnight, Andrew P. Morris, Martina Müller‐Nurasyid, Julius S. Ngwa, Shaun Purcell, Suzanne Rafelt, Rany M. Salem, Erika Salvi, Serena Sanna, Jianxin Shi, Ulla Sovio, John R. Thompson, Michael C. Turchin, Liesbeth Vandenput, Dominique J. Verlaan, Véronique Vitart, Charles C. White, Andreas Ziegler, Peter Almgren, Anthony J. Balmforth, Harry Campbell, Lorena Citterio, Alessandro De Grandi, Anna F. Dominiczak, Jubao Duan, Paul Elliott, Roberto Elosúa, Johan G. Eriksson, Nelson B. Freimer, Eco J. C. de Geus, Nicola Glorioso, Haiqing Shen, Anna-Liisa Hartikainen, Aki S. Havulinna, Andrew A. Hicks, Jennie Hui, Wilmar Igl, Thomas Illig, Antti Jula, Eero Kajantie, Tuomas O. Kilpeläinen, Markku Koiranen, Ivana Kolčić, Seppo Koskinen, Péter Kovács, Jaana Laitinen, Jianjun Liu, Marja‐Liisa Lokki, Ana Marušić, Andrea Maschio, Thomas Meitinger, Antonella Mulas, Guillaume Paré, Alex Parker, John F. Peden, Astrid Petersmann, Irene Pichler, Kirsi H. Pietiläinen, Anneli Pouta, Martin Ridderstråle, Jerome I. Rotter, Jennifer G. Sambrook, Alan R. Sanders, Carsten Oliver Schmidt, Juha Sinisalo, Jan Smit, Heather M. Stringham, G. Bragi Walters, Elisabeth Widén, Sarah H. Wild, Gonneke Willemsen, Laura Zagato, Lina Zgaga, Paavo Zitting, Helene Alavere, Martin Farrall, Wendy L. McArdle, Mari Nelis, Marjolein J. Peters, Samuli Ripatti, Joyce B. J. van Meurs, Katja K.H. Aben, Kristin Ardlie, J. Beckmann, John Beilby, Richard N. Bergman, Sven Bergmann, Francis S. Collins, Daniele Cusi, Martin den Heijer, Guðný Eiríksdóttir, Pablo V. Gejman, Alistair S. Hall, Anders Hamsten, Heikki V. Huikuri, Carlos Iribarren, Mika Kähönen, Jaakko Kaprio, Sekar Kathiresan, Lambertus A. Kiemeney, Thomas Köcher, Lenore J. Launer, Terho Lehtimäki, Olle Melander, Tom Mosley, Arthur W. Musk, Markku S. Nieminen, Christopher J. O’Donnell, Claes Ohlsson, Ben A. Oostra, Lyle J. Palmer, Olli T. Raitakari, Paul M. Ridker, John D. Rioux, Aila Rissanen, Carlo Rivolta, Heribert Schunkert, Alan R. Shuldiner, David S. Siscovick, Michael Stümvoll, Anke Tönjes, Jaakko Tuomilehto, Gert-Jan van Ommen, Jorma Viikari, Andrew C. Heath, Nicholas G. Martin, Grant W. Montgomery, Michael A. Province, Manfred Kayser, Alice M. Arnold, Larry D. Atwood, Eric Boerwinkle, Stephen J. Chanock, Panos Deloukas, Christian Gieger, Henrik Grönberg, Per Hall, Andrew T. Hattersley, Christian Hengstenberg, Wolfgang Hoffman, G.M. Lathrop, Veikko Salomaa, Stefan Schreiber, Manuela Uda, Dawn Waterworth, Alan F. Wright, Themistocles L. Assimes, Inês Barroso, Albert Hofman, Karen L. Mohlke, Dorret I. Boomsma, Mark J. Caulfield, L. Adrienne Cupples, Jeanette Erdmann, Caroline S. Fox, Vilmundur Guðnason, Ulf Gyllensten, Tamara B. Harris, Richard B. Hayes, Marjo‐Riitta Järvelin, Vincent Mooser, Patricia B. Munroe, Willem H. Ouwehand, Brenda W.J.H. Penninx, Peter P. Pramstaller, Thomas Quertermous, Igor Rudan, Nilesh J. Samani, Timothy D. Spector, Henry Völzke, Hugh Watkins, James F. Wilson, Leif Groop, Talin Haritunians, Frank B. Hu, Robert C. Kaplan, Andres Metspalu, Kari E. North, David Schlessinger, Nicholas J. Wareham, David J. Hunter, Jeffrey R. O’Connell, David P. Strachan, H.‐Erich Wichmann, Ingrid B. Borecki, Cornelia M. van Duijn, Eric E. Schadt, Unnur Þorsteinsdóttir, Leena Peltonen, André G. Uitterlinden, Peter M. Visscher, Nilanjan Chatterjee, Ruth J. F. Loos, Michael Boehnke, Mark I. McCarthy, Erik Ingelsson, Cecilia M. Lindgren, Gonçalo R. Abecasis, Kāri Stefánsson, Timothy M. Frayling, Joel N. Hirschhorn

Bibliographic record

VenueNature · 2010
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité de MontréalMcMaster UniversityMcGill University and Génome Québec Innovation CentreMontreal Heart Institute
FundersNational Center for Research ResourcesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Institute of General Medical SciencesNational Institute on Drug AbuseNational Institute on AgingNational Cancer InstituteBritish Heart FoundationNational Institute on Alcohol Abuse and AlcoholismNational Heart, Lung, and Blood InstituteNational Institute of Mental HealthNational Institute of Arthritis and Musculoskeletal and Skin DiseasesMedical Research CouncilU.S. Public Health ServiceCancer Research UKNational Institutes of HealthSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNational Human Genome Research InstituteWellcome Trust
KeywordsBiologyGeneticsGenome-wide association studyGenePolygenePhenotypeQuantitative trait locusGenetic associationHuman genomeGenetic architectureGenomeHuman geneticsEvolutionary biologySingle-nucleotide polymorphismGenotype

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 score0.004
Threshold uncertainty score0.014

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.003
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

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 head0.012
GPT teacher head0.269
Teacher spread0.257 · 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".

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Citations2,057
Published2010
Admission routes1
Has abstractno

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