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Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
Aleksejs Sazonovs, Christine Stevens, Guhan Venkataraman, Kai Yuan, Brandon E. Avila, Maria T. Abreu, Tariq Ahmad, Matthieu Allez, Ashwin N. Ananthakrishnan, Gil Atzmon, Aris Baras, Jeffrey C. Barrett, Nir Barzilai, Laurent Beaugerie, Ashley Beecham, Charles N. Bernstein, Alain Bitton, Bernd Bokemeyer, Andrew Chan, Daniel C. Chung, Isabelle Cleynen, Jacques Cosnes, David J. Cutler, Allan Daly, Oriana M. Damas, Lisa W. Datta, Noor Dawany, Marcella Devoto, Sheila Dodge, Eva Ellinghaus, Laura Fachal, Martti Färkkilâ, William A. Faubion, Manuel A. R. Ferreira, Denis Franchimont, Stacey Gabriel, Tian Ge, Michel Georges, Kyle Gettler, Mamta Giri, Benjamin Gläser, Siegfried Goerg, Philippe Goyette, Daniel B. Graham, Eija Hämäläinen, Talin Haritunians, Graham Heap, Mikko Hiltunen, Marc P. Hoeppner, Julie Horowitz, Peter M. Irving, Vivek Iyer, Chaim Jalas, Judith R. Kelsen, Hamed Khalili, Barbara S. Kirschner, Kimmo Kontula, Jukka Koskela, Subra Kugathasan, Juozas Kupčinskas, Christopher A Lamb, Matthias Laudes, Chloé Lévesque, Adam P. Levine, James D. Lewis, Claire Liefferinckx, Britt-Sabina Loescher, Édouard Louis, John Mansfield, Sandra May, Jacob L. McCauley, Emebet Mengesha, Myriam Mni, Paul Moayyedi, Christopher J. Moran, Rodney D. Newberry, Sirimon O’Charoen, David T. Okou, Bas Oldenburg, Harry Ostrer, Aarno Palotie, Jean Paquette, Joel Pekow, Inga Peter, Marieke Pierik, Cyriel Y. Ponsioen, Nikolas Pontikos, Natalie J. Prescott, Ann E. Pulver, Souad Rahmouni, Daniel L Rice, Päivi Saavalainen, Bruce E. Sands, R. Balfour Sartor, Elena Schiff, Stefan Schreiber, L. Philip Schumm, Anthony W. Segal, Philippe Seksik, Rasha Shawky, Shehzad Z. Sheikh, Mark S. Silverberg, Alison Simmons, Jurgita Skeiceviciene, Harry Sokol, Matthew Solomonson, Hari K. Somineni, Dylan Sun, Stephan Targan, Dan Turner, Holm H. Uhlig, Andrea E. van der Meulen‐de Jong, Séverine Vermeire, Sare Verstockt, Michiel Voskuil, Harland S. Winter, Justine Young, Richard H. Duerr, André Franke, Steven R. Brant, Judy H. Cho, Rinse K. Weersma, Miles Parkes, Ramnik J. Xavier, Manuel A. Rivas, John D. Rioux, Dermot McGovern, Hailiang Huang, Carl A. Anderson, Mark J. Daly
Bibliographic record
VenueNature Genetics · 2022
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicInflammatory Bowel Disease
Canadian institutionsUniversité de MontréalMcMaster UniversityUniversity of ManitobaMontreal Heart InstituteMcGill University Health CentreMount Sinai Hospital
FundersNational Institute on AgingMedical Research CouncilNational Institute of Diabetes and Digestive and Kidney DiseasesStanley Center for Psychiatric Research, Broad InstituteNIHR Newcastle Biomedical Research CentreCrohn's and Colitis UKFonds De La Recherche Scientifique - FNRSAcademy of FinlandLeona M. and Harry B. Helmsley Charitable TrustNational Institute for Health and Care ResearchBroad InstituteNational Human Genome Research InstituteNIHR Oxford Biomedical Research CentreWellcome TrustNational Institutes of HealthU.S. Department of Health and Human Services
KeywordsBiologyGeneticsGeneComputational biologyDiseaseCrohn's disease
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 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 categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.067
Threshold uncertainty score0.909
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 | 0.000 |
| 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 head0.006
GPT teacher head0.227
Teacher spread0.221 · 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 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
Citations189
Published2022
Admission routes1
Has abstractno