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Record W2504926893 · doi:10.1053/j.gastro.2016.06.051

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn’s Disease and Human Gut Microbiome Composition

2016· article· en· W2504926893 on OpenAlexaff
Dalin Li, Jean-Paul Achkar, Talin Haritunians, Jonathan P. Jacobs, Ken Hui, Mauro D’Amato, Stephan Brand, Graham Radford‐Smith, Jonas Halfvarson, Jan Hendrik Niess, Subra Kugathasan, Carsten Büning, L. Philip Schumm, Lambertus Klei, Ashwin N. Ananthakrishnan, Guy Aumais, Leonard Baidoo, Marla C. Dubinsky, Claudio Fiocchi, Jürgen Glas, Raquel Milgrom, Deborah D. Proctor, Miguel Regueiro, Lisa A. Simms, Joanne M. Stempak, Stephan R. Targan, Leif Törkvist, Yashoda Sharma, Bernie Devlin, James Borneman, Håkon Håkonarson, Ramnik J. Xavier, Mark J. Daly, Steven R. Brant, John D. Rioux, Mark S. Silverberg, Judy H. Cho, Jonathan Braun, Dermot McGovern, Richard H. Duerr

Bibliographic record

VenueGastroenterology · 2016
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicInflammatory Bowel Disease
Canadian institutionsMontreal Heart InstituteUniversity of TorontoMount Sinai HospitalUniversité de MontréalHôpital Maisonneuve-Rosemont
FundersNational Institute of Dental and Craniofacial ResearchNational Institute of Allergy and Infectious DiseasesNational Institute of General Medical SciencesNational Cancer InstituteNational Institutes of HealthAgency for Healthcare Research and QualityNational Institute on AgingNational Institute of Diabetes and Digestive and Kidney DiseasesSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNational Center for Advancing Translational SciencesCrohn's and Colitis Foundation
KeywordsInflammatory bowel diseaseUlcerative colitisMissense mutationGenome-wide association studyDiseaseCrohn's diseaseMicrobiomeBiologyGeneticsMedicineBioinformaticsGeneSingle-nucleotide polymorphismMutationInternal medicineGenotype

Abstract

fetched live from OpenAlex
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 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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.601
Threshold uncertainty score0.544

Codex and Gemma teacher scores by category

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

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 head0.005
GPT teacher head0.207
Teacher spread0.202 · 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 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

Citations152
Published2016
Admission routes1
Has abstractno

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