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A plausibly causal functional lupus-associated risk variant in the STAT1–STAT4 locus
Zubin Patel, Xiaoming Lu, Daniel Miller, Carmy Forney, Joshua Lee, Arthur Lynch, Connor Schroeder, Lois Parks, Albert Frank Magnusen, Xiaoting Chen, Mario Pujato, Avery Maddox, Erin E. Zoller, Bahram Namjou, Hermine I. Brunner, Michael Henrickson, Adrienne H. Williams, Julie T. Ziegler, Mary E. Comeau, Miranda C. Marion, Stuart B. Glenn, Adam Adler, Nan Shen, Swapan K. Nath, Anne M. Stevens, Barry I. Freedman, Bernardo A. Pons‐Estel, Betty P. Tsao, Chaim O. Jacob, Diane L. Kamen, Elizabeth E. Brown, Gary S. Gilkeson, Graciela S. Alarcón, Javier Martı́n, John D. Reveille, Juan‐Manuel Anaya, Judith A. James, Kathy L. Sivils, Lindsey A. Criswell, Luis M. Vilá, Michelle Petri, R. Hal Scofield, Robert P. Kimberly, Jeffrey C. Edberg, Rosalind Ramsey‐Goldman, So‐Young Bang, Hye‐Soon Lee, Sang‐Cheol Bae, Susan A. Boackle, Deborah Cunninghame Graham, Timothy J. Vyse, Joan T. Merrill, Timothy B. Niewold, Hannah C. Ainsworth, Earl D. Silverman, Michael H. Weisman, Daniel J. Wallace, Prithvi Raj, Joel M. Guthridge, Patrick M. Gaffney, Jennifer A. Kelly, Marta E. Alarcón‐Riquelme, Carl D. Langefeld, Edward K. Wakeland, Kenneth M. Kaufman, Matthew T. Weirauch, John B. Harley, Leah C. Kottyan
Bibliographic record
VenueHuman Molecular Genetics · 2018
Typearticle
Languageen
FieldMedicine
TopicSystemic Lupus Erythematosus Research
Canadian institutionsSickKids FoundationHospital for Sick ChildrenUniversity of Toronto
FundersNational Institute on Minority Health and Health DisparitiesNational Center for Research ResourcesNational Institute of Diabetes and Digestive and Kidney DiseasesNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Institute of Allergy and Infectious DiseasesNational Center for Advancing Translational SciencesNational Human Genome Research InstituteNational Institutes of HealthNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesChinese Academy of SciencesNational Natural Science Foundation of ChinaLupus Research AllianceNational Key Research and Development Program of ChinaU.S. Department of Veterans Affairs
KeywordsBiologyLocus (genetics)AlleleGeneticsSystemic lupus erythematosusExpression quantitative trait lociGenotypeImmunologyDiseaseGeneSingle-nucleotide polymorphismMedicineInternal medicine
Abstract
OpenAlex records an abstract for this work, but it could not be fetched just now.
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)0.001
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 score0.212
Threshold uncertainty score0.707
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 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 head0.031
GPT teacher head0.307
Teacher spread0.276 · 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
Citations41
Published2018
Admission routes1
Has abstractyes