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Record W2189024098 · doi:10.1038/ncomms9658

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

2015· article· en· W2189024098 on OpenAlexafffund
María Soler Artigas, Louise V. Wain, S. Miller, Abdul Kader Kheirallah, Jennifer E. Huffman, Ιωάννα Ντάλλα, Nick Shrine, Ma’en Obeidat, Holly Trochet, Wendy L. McArdle, Alexessander Couto Alves, Jennie Hui, Wei Zhao, Peter K. Joshi, Alexander Teumer, Eva Albrecht, Medea Imboden, Rajesh Rawal, Lorna M. Lopez, Jonathan Marten, Stefan Enroth, Ida Surakka, Ozren Polašek, Leo‐Pekka Lyytikäinen, Raquel Granell, Pirro G. Hysi, Claudia Flexeder, Anubha Mahajan, John Beilby, Yohan Bossé, Corry‐Anke Brandsma, Harry Campbell, Christian Gieger, Sven Gläser, Juan R. González, Harald Grallert, Christopher J. Hammond, Sarah E. Harris, Anna‐Liisa Hartikainen, Markku Heliövaara, John Henderson, Lynne J. Hocking, Momoko Horikoshi, Nina Hutri‐Kähönen, Erik Ingelsson, Åsa Johansson, John P. Kemp, Ivana Kolčić, Ashish Kumar, Lars Lind, Erik Melén, Arthur W. Musk, Pau Navarro, David C. Nickle, Sandosh Padmanabhan, Olli T. Raitakari, Janina S. Ried, Samuli Ripatti, Holger Schulz, Robert A. Scott, Don D. Sin, John M. Starr, Ana Viñuela, Henry Völzke, Alan F. Wright, Tatijana Zemunik, Deborah Jarvis, Tim D Spector, David M. Evans, Terho Lehtimäki, Véronique Vitart, Mika Kähönen, Ulf Gyllensten, Igor Rudan, Ian J. Deary, Stefan Karrasch, Nicole M Probst-Hensch, Joachim Heinrich, Beate Stubbe, James F Wilson, Nicholas J. Wareham, Alan L James, Andrew P Morris, Marjo‐Riitta Järvelin, Caroline Hayward, Ian Sayers, David P Strachan, Ian P. Hall, Martin D. Tobin

Bibliographic record

VenueNature Communications · 2015
Typearticle
Languageen
FieldMedicine
TopicChronic Obstructive Pulmonary Disease (COPD) Research
Canadian institutionsUniversity of British ColumbiaInstitut universitaire de cardiologie et de pneumologie de QuébecSt. Paul's Hospital
FundersNational Institute of Child Health and Human DevelopmentNational Institute of Allergy and Infectious DiseasesNational Institute of Mental HealthNIHR Cambridge Biomedical Research CentreCambridge Institute for Medical Research, University of CambridgeUppsala UniversitetMedical Research CouncilFonds de Recherche du Québec - SantéNational Institutes of HealthNational Institute of Diabetes and Digestive and Kidney DiseasesTurun Yliopistollinen KeskussairaalaHealthwayTaysSvenska LäkaresällskapetSydäntutkimussäätiöEmil Aaltosen SäätiöHrvatska Zaklada za ZnanostVetenskapsrådetJuho Vainion SäätiöPaavo Nurmen SäätiöHjärt-LungfondenOulun YliopistoSuomen KulttuurirahastoKuopion Yliopistollinen SairaalaUniversity of BristolEuropean CommissionPfizerMünchner Zentrum für GesundheitswissenschaftenStiftelsen för Strategisk ForskningUniversity of OxfordAcademy of FinlandEuropean Regional Development FundKing's College LondonDirectorate for Biological SciencesImperial College LondonSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungUniversity of LeicesterFoundation for Cardiovascular ResearchAge UKBritish Heart FoundationBundesministerium für Bildung und ForschungUppsala Multidisciplinary Center for Advanced Computational ScienceUniversity of EdinburghCentre for Cognitive Ageing and Cognitive EpidemiologyNational Eye InstituteBiocenter, University of OuluNational Institute for Health and Care ResearchNational Heart, Lung, and Blood InstituteBiotechnology and Biological Sciences Research CouncilWellcome TrustUniversity College LondonCancer Research UKEast Midlands Development AgencyMichael Smith Health Research BCJuvenile Diabetes Research Foundation InternationalUniversité Laval
KeywordsImputation (statistics)Genome-wide association studyVital capacity1000 Genomes ProjectLung functionGenomeGenotypePulmonary function testingBiologyMedicineLungComputational biologyGeneticsInternal medicineSingle-nucleotide polymorphismStatisticsGeneMathematicsMissing data

Abstract

fetched live from OpenAlex

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.760
Threshold uncertainty score0.794

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.000

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 head0.122
GPT teacher head0.398
Teacher spread0.276 · 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 teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
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".

Quick stats

Citations161
Published2015
Admission routes2
Has abstractyes

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