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Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks
Florence Démenais, Patricia Margaritte‐Jeannin, Kathleen C. Barnes, William Cookson, Janine Altmüller, Wei Ang, R. Graham Barr, Terri H. Beaty, Allan B. Becker, John Beilby, Hans Bisgaard, Unnur Steina Björnsdóttir, Eugene R. Bleecker, Klaus Bønnelykke, Dorret I. Boomsma, Emmanuelle Bouzigon, Christopher E. Brightling, Myriam Brossard, Guy Brusselle, Esteban G. Burchard, Kristin M. Burkart, Andrew Bush, Moira Chan‐Yeung, Kian Fan Chung, Alexessander Couto Alves, John A. Curtin, Adnan Čustović, Denise Daley, Johan C. de Jongste, Blanca E. Del-Río-Navarro, Kathleen Donohue, Liesbeth Duijts, Celeste Eng, Johan G. Eriksson, Martin Farrall, Yu. Yu. Fedorova, Bjarke Feenstra, Manuel A. R. Ferreira, Maxim B. Freidin, Zofia K. Z. Gajdos, Jim Gauderman, Ulrike Gehring, Frank Geller, Jon Genuneit, Sina A. Gharib, Frank D. Gilliland, Raquel Granell, Penelope E. Graves, Daníel F. Guðbjartsson, Tari Haahtela, Susan R. Heckbert, Dick Heederik, Joachim Heinrich, Markku Heliövaara, John Henderson, Blanca E. Himes, Hiroshi Hirose, Joel N. Hirschhorn, Albert Hofman, Patrick G. Holt, Thomas J. Hudson, Jennie Hui, Medea Imboden, В. П. Иванов, Vincent W. V. Jaddoe, Christer Janson, Marjo‐Riitta Järvelin, Deborah Jarvis, Graham Jones, Ingileif Jónsdóttir, Michael Kabesch, Mika Kähönen, David B. Kantor, А. С. Карунас, Э. К. Хуснутдинова, Gerard H. Koppelman, Anita L. Kozyrskyj, Eskil Kreiner, Michiaki Kubo, Rajesh Kumar, Ashish Kumar, Mikko Kuokkanen, Lies Lahousse, Tarja Laitinen, Catherine Laprise, Mark Lathrop, Susanne Lau, Youngae Lee, Terho Lehtimäki, Sébastien Letort, Albert M. Levin, Li Guo, Liming Liang, Laura R. Loehr, Stephanie J. London, Daan W. Loth, Ani Manichaikul, Ingo Marenholz, Fernando J. Martínez, Melanie C. Matheson, Rasika A. Mathias, Kenji Matsumoto, Hamdi Mbarek, Wendy L. McArdle, Mads Melbye, Erik Melén, Deborah A. Meyers, Sven Michel, Hamida Mohamdi, Arthur W. Musk, Rachel A. Myers, Maartje A. E. Nieuwenhuis, Emiko Noguchi, George O'connor, Л. М. Огородова, Cameron D. Palmer, Aarno Palotie, Julie E. Park, Craig E. Pennell, Göran Pershagen, Alexey Polonikov, Dirkje S. Postma, Nicole Probst‐Hensch, В. П. Пузырев, Benjamin A. Raby, Olli T. Raitakari, Adaikalavan Ramasamy, Stephen S. Rich, Colin F. Robertson, Isabelle Romieu, Muhammad T. Salam, Veikko Salomaa, Vivi Schlünssen, Robert A. Scott, П. А. Селиванова, Torben Sigsgaard, Angela Simpson, Valérie Siroux, Lewis J. Smith, Maria Solodilova, Marie Standl, David P. Strachan, Bruno H. Stricker, Atsushi Takahashi, Philip J. Thompson, Guðmar Þorleifsson, Unnur Þorsteinsdóttir, Carla M. T. Tiesler, Dara G. Torgerson, Tatsuhiko Tsunoda, André G. Uitterlinden, Ralf J.P. van der Valk, Amaury Vaysse, Sailaja Vedantam, Andrea von Berg, Erika von Mutius, Judith M. Vonk, Johannes Waage, Scott T. Weiss, Wendy White, Magnus Wickman, Elisabeth Widén, Gonneke Willemsen, L. Keoki Williams, Inge M. Wouters, James J. Yang, Jing Hua Zhao, Miriam F. Moffatt, Carole Ober, Dan L. Nicolae
Bibliographic record
VenueNature Genetics · 2017
Typereview
Languageen
FieldMedicine
TopicAsthma and respiratory diseases
Canadian institutionsCentre Intégré Universitaire de Santé et de Services Sociaux du Saguenay–Lac-Saint-JeanUniversity of AlbertaUniversité du Québec à ChicoutimiOntario Institute for Cancer ResearchMcGill University and Génome Québec Innovation CentreUniversity of British ColumbiaUniversity of Manitoba
FundersNational Heart, Lung, and Blood InstituteMedical Research CouncilNational Institute of Environmental Health SciencesNational Institute for Health and Care ResearchNational Cancer InstituteLundbeckfondenWellcome Trust
KeywordsAsthmaBiologyGenome-wide association studyPleiotropyGeneticsImmunologyGenetic associationEnhancerImmune systemGenotypeGenePhenotypeSingle-nucleotide polymorphismTranscription factor
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)0.001
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: Review · Consensus signal: Review
Teacher disagreement score0.002
Threshold uncertainty score0.007
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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 head0.028
GPT teacher head0.353
Teacher spread0.324 · 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
GenreReview
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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Citations592
Published2017
Admission routes1
Has abstractno