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Record W2473152701 · doi:10.1016/j.jaci.2016.05.028

Complete human CD1a deficiency on Langerhans cells due to a rare point mutation in the coding sequence

2016· letter· en· W2473152701 on OpenAlexfundno aff
Daniela Cerny, Duyen Huynh Thi Le, Trung Dinh The, Roland Zuest, Srinivasan KG, Sumathy Velumani, Chiea Chuen Khor, Lucia Mori, Cameron P. Simmons, Michael Poidinger, Francesca Zolezzi, Florent Ginhoux, Muzlifah Haniffa, Bridget Wills, Katja Fink

Bibliographic record

VenueJournal of Allergy and Clinical Immunology · 2016
Typeletter
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsnot available
FundersInstitute of Infection and ImmunityDirectorate for Biological SciencesNanyang Technological UniversityNewcastle UniversityGenome Institute of SingaporeAgency for Science, Technology and ResearchWellcome TrustUniversity of OxfordUniversität Basel
KeywordsPoint mutationMutationCoding regionSequence (biology)Langerhans cellGeneticsCancer researchBiologyGeneAntigen

Abstract

fetched live from OpenAlex

a mutation in the 59 untranslated region of the NEMO gene.

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)0.000
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: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.009

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0010.001
Scholarly communication0.0000.001
Open science0.0000.000
Research integrity0.0030.002
Insufficient payload (model declined to judge)0.0030.001

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 head0.044
GPT teacher head0.311
Teacher spread0.268 · 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 designCase report
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

Citations4
Published2016
Admission routes1
Has abstractyes

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