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Rare and low-frequency coding variants alter human adult height
Eirini Marouli, Mariaelisa Graff, Carolina Medina‐Gómez, Ken Sin Lo, Andrew R. Wood, Troels R. Kjær, Rebecca S. Fine, Yingchang Lu, Claudia Schurmann, Heather M. Highland, Sina Rüeger, Guðmar Þorleifsson, Anne E. Justice, David Lamparter, Kathleen Stirrups, Valérie Turcot, Kristin L. Young, Thomas W. Winkler, Tõnu Esko, Tugce Karaderi, Adam E. Locke, Nicholas G. D. Masca, Maggie Ng, Poorva Mudgal, Manuel A. Rivas, Sailaja Vedantam, Anubha Mahajan, Xiuqing Guo, Gonçalo R. Abecasis, Katja K.H. Aben, Linda S. Adair, Dewan S Alam, Eva Albrecht, Kristine H. Allin, Matthew Allison, Philippe Amouyel, Emil V. R. Appel, Dominique Arveiler, Folkert W. Asselbergs, Paul L. Auer, Beverley Balkau, Bernhard Banas, Lia E. Bang, Marianne Benn, Sven Bergmann, Lawrence F. Bielak, Matthias Blüher, Heiner Boeing, Eric Boerwinkle, Carsten A. Böger, Lori L. Bonnycastle, Jette Bork‐Jensen, Michiel L. Bots, Erwin P. Böttinger, Donald W. Bowden, Ivan Brandslund, Gerome Breen, Murray H. Brilliant, Linda Broer, Amber Burt, Adam S. Butterworth, David J. Carey, Mark J. Caulfield, John C. Chambers, Daniel I. Chasman, Yii‐Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y. Chu, Massimiliano Cocca, Francis S. Collins, James P. Cook, Janie Corley, Jordi Corominas Galbany, Amanda J. Cox, Gabriel Cuéllar-Partida, John Danesh, Gail Davies, Paul I. W. de Bakker, Gert J. de Borst, Simon de Denus, Mark de Groot, Renée de Mutsert, Ian J. Deary, George Dedoussis, Ellen W. Demerath, Anneke I. den Hollander, Joe Dennis, Emanuele Di Angelantonio, Fotios Drenos, Mengmeng Du, Alison M. Dunning, Douglas F. Easton, Tapani Ebeling, Todd L. Edwards, Patrick T. Ellinor, Paul Elliott, Εvangelos Εvangelou, Aliki‐Eleni Farmaki, Jessica D. Faul, Mary F. Feitosa, Shuang Feng, Ele Ferrannini, Maurizio Ferrario, Jean Ferrières, José C. Florez, Ian Ford, Myriam Fornage, Paul W. Franks, Ruth Frikke‐Schmidt, Tessel E. 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Kluivers, Thomas Köcher, Pirjo Komulainen, Jukka Kontto, Jaspal S. Kooner, Charles Kooperberg, Péter Kovács, Jennifer Kriebel, Helena Kuivaniemi, Sébastien Küry, Johanna Kuusisto, Martina La Bianca, Markku Laakso, Timo A. Lakka, Ethan M. Lange, Leslie A. Lange, Carl D. Langefeld, Claudia Langenberg, Eric B. Larson, I‐Te Lee, Terho Lehtimäki, Cora E. Lewis, Huaixing Li, Jin Li, Ruifang Li‐Gao, Honghuang Lin, Li‐An Lin, Lin Xu, Lars Lind, Jaana Lindström, Allan Linneberg, Yeheng Liu, Ching‐Ti Liu, Artitaya Lophatananon, Jian’an Luan, Steven A. Lubitz, Leo‐Pekka Lyytikäinen, David A. Mackey, Pamela A. F. Madden, Alisa K. Manning, Satu Männistö, Gaëlle Marenne, Jonathan Marten, Nicholas G. Martin, Angela L. Mazul, Karina Meidtner, Andres Metspalu, Paul Mitchell, Karen L. Mohlke, Dennis O. Mook‐Kanamori, Anna Morgan, Andrew D. Morris, Andrew P. Morris, Martina Müller‐Nurasyid, Patricia B. Munroe, Mike A. Nalls, Matthias Nauck, Christopher P. Nelson, Matt J. Neville, Sune F. 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Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.
Bibliographic record
VenueNature · 2017
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMemorial University of NewfoundlandUniversité de MontréalDalhousie UniversityMontreal Heart Institute
FundersInstitute of GeneticsCarolina Population Center, University of North Carolina at Chapel HillNational Center for Advancing Translational SciencesNational Institute of Diabetes and Digestive and Kidney DiseasesNetherlands Heart InstituteNIHR Oxford Biomedical Research CentreHelmholtz Zentrum MünchenNational Heart, Lung, and Blood InstituteBiotechnology and Biological Sciences Research CouncilSocial Science Research Institute, Duke UniversitySchool of Medicine, Stanford UniversityNational Institutes of HealthHjartaverndSteno Diabetes Center CopenhagenTaysNovo Nordisk FondenNational Institute of Mental HealthSyddansk UniversitetUniversità di PisaTerveyden ja hyvinvoinnin laitosMenzies Institute for Medical ResearchBritish Heart FoundationHáskóli ÍslandsRegion HovedstadenNational Institute of General Medical SciencesLeids Universitair Medisch CentrumUniversitetet i BergenTampereen YliopistoLunds UniversitetNational Cancer InstituteUniversity College LondonLundbeckfondenAalborg UniversitetUniversity of GlasgowUniversiteit LeidenUniversity of North Carolina at Chapel HillHarvard UniversityScience for Life LaboratoryNational Human Genome Research InstituteRigshospitaletUniversity of Texas Health Science Center at HoustonUniversità degli Studi dell'InsubriaMenzies Research Institute TasmaniaUniversity of AberdeenGentofte HospitalUniversity of ExeterUniversity of Southern CaliforniaWellcome TrustSidra MedicineNational Eye InstituteNational Institute for Health and Care ResearchUmeå UniversitetHelsingin YliopistoImperial College LondonUniversity of TasmaniaEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentHaukeland UniversitetssjukehusUnited Kingdom Clinical Research CollaborationErasmus Medisch CentrumEuropean Hematology AssociationUniversité de ToulouseUniversity of OxfordNorges Teknisk-Naturvitenskapelige UniversitetMedical Research CouncilUppsala UniversitetUniversity of California, Los AngelesUniversity of WashingtonDoris Duke Charitable Foundation
KeywordsBiologyGeneticsAlleleGeneQuantitative trait locusGenome-wide association studyGenetic associationPhenotypeMinor allele frequencyAllele frequencyHuman genomeCoding regionGenomeSingle-nucleotide polymorphismGenotype
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.
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.608
Threshold uncertainty score0.744
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 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 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 head0.009
GPT teacher head0.284
Teacher spread0.275 · 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 itQuick stats
Citations654
Published2017
Admission routes2
Has abstractno