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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
Phuwanat Sakornsakolpat, Dmitry Prokopenko, Maxime Lamontagne, Nicola Reeve, Anna L. Guyatt, Victoria E. Jackson, Nick Shrine, Dandi Qiao, Traci M. Bartz, Deog Kyeom Kim, Mi Kyeong Lee, Jeanne C. Latourelle, Xingnan Li, Jarrett D. Morrow, Ma’en Obeidat, Annah B. Wyss, Per Bakke, R. Graham Barr, Terri H. Beaty, Steven A. Belinsky, Guy Brusselle, James D. Crapo, Kim de Jong, Dawn L. DeMeo, Tasha E. Fingerlin, Sina A. Gharib, Amund Gulsvik, Ian P. Hall, John E. Hokanson, Woo Jin Kim, David A. Lomas, Stephanie J. London, Deborah A. Meyers, George O'connor, Stephen I. Rennard, David A. Schwartz, Paweł Śliwiński, David Sparrow, Ruth Tal‐Singer, Yohannes Tesfaigzi, Jørgen Vestbo, Judith M. Vonk, Jae‐Joon Yim, Xiaobo Zhou, Ani Manichaikul, Lies Lahousse, Edwin K. Silverman, H. Marike Boezen, Martin D. Tobin, Brian D. Hobbs, Michael H. Cho, Chiara Batini, Jing Hua Zhao, Matthias Wielscher, Stefan Weiß, Katherine A. Kentistou, James P. Cook, Jennie Hui, Stefan Karrasch, Medea Imboden, Sarah E. Harris, Jonathan Marten, Stefan Enroth, Shona M. Kerr, Ida Surakka, Véronique Vitart, Terho Lehtimäki, Ralf Ewert, Christian Gieger, Georg Homuth, Peter K. Joshi, Claudia Langenberg, Lars Lind, Jian’an Luan, Anubha Mahajan, Alison D. Murray, David J. Porteous, Rajesh Rawal, Blair H. Smith, Paul R. H. J. Timmers, Olli Raitakari, Mika Kähönen, Ozren Polašek, Ulf Gyllensten, Igor Rudan, Ian J. Deary, Nicole Probst‐Hensch, Holger Schulz, James F. Wilson, Beate Stubbe, Eleftheria Zeggini, Marjo‐Riitta Järvelin, Caroline Hayward, Andrew P. Morris, Àlvar Agustí, Wayne H. Anderson, Nawar Diar Bakerly, Robert Bals, Kathleen C. Barnes, Eugene R. Bleecker, Russell P. Bowler, Christopher E. Brightling, Marleen de Bruijne, Peter J. Castaldi, Bartolomé R. Celli, Harvey O. Coxson, Ron Crystal, Pim de Jong, Asger Dirksen, Jennifer Dy, Marilyn Foreman, Judith García‐Aymerich, Pierre Alain Gevenois, Soumitra Ghosh, Hester A. Gietema, Nadia N. Hansel, Craig P. Hersh, Eric A. Hoffman, Noor Kalsheker, Hans‐Ulrich Kauczor, Tarja Laitinen, Diether Lambrechts, Sang‐Do Lee, Augusto A. Litonjua, Daan W. Loth, Sharon M. Lutz, David S. Lynch, William MacNee, Merry‐Lynn McDonald, John D. Newell, Børge G. Nordestgaard, Yeon‐Mok Oh, Peter D. Paré, Massimo Pistolesi, Dirkje S. Postma, Milo A. Puhan, Elizabeth A. Regan, Stephen S. Rich, Joon Beom Seo, A. D. Short, Berend C. Stoel, David P. Strachan, Nicola Sverzellati, Gerben ter Riet, Edwin J.R. van Beek, Bram van Ginneken, Claus Vogelmeier, Louise V. Wain, Adam Wanner, George R. Washko, Els Wauters, Emiel F.�M. Wouters, Robert P. Young, Loems Zeigler-Heitbrock
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.
Bibliographic record
VenueNature Genetics · 2019
Typearticle
Languageen
FieldMedicine
TopicChronic Obstructive Pulmonary Disease (COPD) Research
Canadian institutionsUniversité LavalSt. Paul's HospitalUniversity of British ColumbiaInstitut universitaire de cardiologie et de pneumologie de Québec
FundersBiotechnology and Biological Sciences Research CouncilNational Heart, Lung, and Blood InstituteMedical Research CouncilNational Institute for Health and Care ResearchWellcome Trust
KeywordsBiologyPhenotypePulmonary diseaseGeneticsDiseaseGenetic heterogeneityEvolutionary biologyGeneInternal medicineMedicine
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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.073
Threshold uncertainty score1.000
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 | 0.000 | 0.001 |
| 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 head0.007
GPT teacher head0.264
Teacher spread0.256 · 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
Citations423
Published2019
Admission routes1
Has abstractno