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Seventy-five genetic loci influencing the human red blood cell
Pim van der Harst, Weihua Zhang, Irene Mateo Leach, Augusto Rendon, Niek Verweij, Joban Sehmi, Dirk S. Paul, Ulrich Elling, Hooman Allayee, Man Li, Aparna Radhakrishnan, Sian-Tsung Tan, Katrin Voß, Christian X. Weichenberger, Cornelis A. Albers, Abtehale Al-Hussani, Folkert W. Asselbergs, Marina Ciullo, Fabrice Danjou, Christian Dina, Tõnu Esko, David M. Evans, Lude Franke, Martin Gögele, Jaana Hartiala, Micha Hersch, Hilma Hólm, Jouke‐Jan Hottenga, Stavroula Kanoni, Marcus E. Kleber, Vasiliki Lagou, Claudia Langenberg, Lorna M. Lopez, Leo‐Pekka Lyytikäinen, Olle Melander, Federico Murgia, Ilja M. Nolte, Paul F. O’Reilly, Sandosh Padmanabhan, Afshin Parsa, Nicola Pirastu, Eleonora Porcu, Laura Portas, Inga Prokopenko, Janina S. Ried, So-Youn Shin, Clara Sze-Man Tang, Alexander Teumer, Michela Traglia, Sheila Ulivi, Harm-Jan Westra, Jian Yang, Wei Zhao, Franco Anni, Abdel Abdellaoui, Antony Attwood, Beverley Balkau, Stefania Bandinelli, François Bastardot, Beben Benyamin, Bernhard O. Boehm, William Cookson, Debashish Das, Paul I. W. de Bakker, Rudolf A. de Boer, Eco J. C. de Geus, Marleen H. M. de Moor, Maria Dimitriou, Francisco S. Domingues, Angela Döring, Gunnar Engström, Guðmundur I. Eyjólfsson, Luigi Ferrucci, Krista Fischer, Renzo Galanello, Stephen F. Garner, Bernd Genser, Quince Gibson, Giorgia Girotto, Daníel F. Guðbjartsson, Sarah E. Harris, Anna-Liisa Hartikainen, Claire E. Hastie, Bo Hedblad, Thomas Illig, Jennifer Jolley, Mika Kähönen, Ido P. Kema, John P. Kemp, Liming Liang, Heather Lloyd-Jones, Ruth J. F. Loos, Stuart Meacham, Sarah E. Medland, Christa Meisinger, Yasin Memari, Evelin Mihailov, Kathy Ann Miller, Miriam F. Moffatt, Matthias Nauck, Maria Novatchkova, Teresa Nutile, Ísleifur Ólafsson, Páll T. Önundarson, Debora Parracciani, Brenda W.J.H. Penninx, Lucia Perseu, Antonio Piga, Giorgio Pistis, Anneli Pouta, Ursula Puc, Olli T. Raitakari, Susan M. Ring, Antonietta Robino, Daniela Ruggiero, Aimo Ruokonen, Aude Saint-Pierre, Cinzia Sala, Andres Salumets, Jennifer Sambrook, Hein Schepers, Carsten Oliver Schmidt, Herman H.W. Silljé, Robert Sladek, Johannes H. Smit, John M. Starr, Jonathan Stephens, Patrick Sulem, Toshiko Tanaka, Unnur Þorsteinsdóttir, Vinicius Tragante, Wiek H. van Gilst, L. Joost van Pelt, Dirk J. van Veldhuisen, Uwe Völker, John B. Whitfield, Gonneke Willemsen, Bernhard R. Winkelmann, Gerald Wirnsberger, Ale Algra, Francesco Cucca, Pio D’Adamo, John Danesh, Ian J. Deary, Anna F. Dominiczak, Paul Elliott, Paolo Fortina, Philippe Froguel, Paolo Gasparini, Andreas Greinacher, Stanley L. Hazen, Marjo‐Riitta Järvelin, Kay‐Tee Khaw, Terho Lehtimäki, Winfried Maerz, Nicholas G. Martin, Andres Metspalu, Braxton D. Mitchell, Grant W. Montgomery, Carmel Moore, Gerjan Navis, Mario Pirastu, Peter P. Pramstaller, Ramiro Ramírez‐Solis, Eric E. Schadt, Alan R. Shuldiner, George Davey Smith, J. G. Smith, Harold Snieder, Rossella Sorice, Tim D. Spector, Kāri Stefánsson, Michael Stümvoll, W.H. Wilson Tang, Daniela Toniolo, Anke Tönjes, Peter M. Visscher, Péter Vollenweider, Nicholas J. Wareham, Bruce H. R. Wolffenbuttel, Dorret I. Boomsma, J. Beckmann, George Dedoussis, Panos Deloukas, Manuel A. R. Ferreira, Serena Sanna, Manuela Uda, Andrew A. Hicks, Josef Penninger, Christian Gieger, Jaspal S. Kooner, Willem H. Ouwehand, Nicole Soranzo, John C. Chambers
Bibliographic record
VenueNature · 2012
Typearticle
Languageen
FieldMedicine
TopicErythrocyte Function and Pathophysiology
Canadian institutionsMcGill University
FundersEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Center for Research ResourcesU.S. National Library of MedicineNational Institute of Diabetes and Digestive and Kidney DiseasesNational Center for Advancing Translational SciencesWellcome TrustNational Human Genome Research InstituteNational Institute on Drug AbuseNational Institute for Health and Care ResearchNational Institute of General Medical SciencesNational Institute of Mental HealthNational Heart, Lung, and Blood InstituteNational Institute on AgingBritish Heart FoundationNational Cancer InstituteCancer Research UK
KeywordsBiologyPhenotypeGeneticsGenome-wide association studyCandidate geneGenetic screenQuantitative trait locusGeneGenetic associationRed blood cellDrosophila melanogasterBlood cellSingle-nucleotide polymorphismChromatinGenetic architectureGenetic variationGenotypeImmunology
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)0.001
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 score0.003
Threshold uncertainty score0.012
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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 head0.010
GPT teacher head0.261
Teacher spread0.251 · 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".
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Citations334
Published2012
Admission routes1
Has abstractno