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Record W2370285266 · doi:10.1183/13993003.00114-2016

Susceptibility genes for lung diseases in the major histocompatibility complex revealed by lung expression quantitative trait loci analysis

2016· letter· en· W2370285266 on OpenAlexafffundabout
Maxime Lamontagne, Philippe Joubert, Wim Timens, Dirkje S. Postma, Ke Hao, David C. Nickle, Don D. Sin, Peter D. Paré, Michel Laviolette, Yohan Bossé

Bibliographic record

VenueEuropean Respiratory Journal · 2016
Typeletter
Languageen
FieldMedicine
TopicInterstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
Canadian institutionsUniversité LavalSt. Paul's HospitalUniversity of British ColumbiaInstitut universitaire de cardiologie et de pneumologie de Québec
FundersInstitut universitaire de cardiologie et de pneumologie de Québec, Université LavalUniversity of British ColumbiaFonds de Recherche du Québec - SantéRijksuniversiteit GroningenUniversitair Medisch Centrum GroningenCanadian Institutes of Health ResearchCancer Research SocietyUniversité Laval
KeywordsGenome-wide association studyLinkage disequilibriumBiologyGeneticsLung cancerLocus (genetics)HaplotypeGeneImmunologyMedicineSingle-nucleotide polymorphismOncologyAlleleGenotype

Abstract

fetched live from OpenAlex

The major histocompatibility complex (MHC) has been linked with hundreds of diseases [1]. The MHC is one of the most complex regions of the human genome, because of the high gene density, extended linkage disequilibrium (LD) and sequence diversity [2]. Recent genome-wide association studies (GWAS) have identified polymorphisms located in the MHC that are associated with lung diseases and related traits: asthma, cystic fibrosis, idiopathic interstitial pneumonia, lung cancer and lung function. However, due to the limitations of GWAS and tissue-specific characteristics of gene expression [3], the causal genes and genetic mechanisms mediating the heritable risk within this locus remain to be found. New susceptibility genes for asthma, idiopathic interstitial pneumonia, lung cancer and lung function in the MHC The authors would like to thank Christine Racine and Sabrina Biardel at the Institut universitaire de cardiologie et de pneumologie de Québec (Québec, QC, Canada) site of the Respiratory Health Network Biobank of the FRQS for their valuable assistance. At the University of British Columbia (Vancouver, BC, Canada) the authors thank the biobank coordinator Mark Elliott. At the University of Groningen, University Medical Center Groningen (Groningen, the Netherlands) Marnix Jonker is thanked for his support in selecting, handling and sending of lung tissues.

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 machine prediction

Teacher imitation

Not 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: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.000

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 head0.041
GPT teacher head0.319
Teacher spread0.278 · 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 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".

Quick stats

Citations14
Published2016
Admission routes3
Has abstractyes

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