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Record W2525067247 · doi:10.1136/jmedgenet-2016-104202

Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disability

2016· article· en· W2525067247 on OpenAlexafffund
Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, Maher Shahrour, Anik St‐Denis, Avraham Shaag, Nadirah Damseh, Françoise Le Deist, Yenan T. Bryceson, Bassam Abu‐Libdeh, Philippe M. Campeau, Taroh Kinoshita, Orly Elpeleg

Bibliographic record

VenueJournal of Medical Genetics · 2016
Typearticle
Languageen
FieldMedicine
TopicTrypanosoma species research and implications
Canadian institutionsUniversité de MontréalCentre Hospitalier Universitaire Sainte-Justine
FundersCanadian Institutes of Health ResearchJapan Agency for Medical Research and DevelopmentFonds de Recherche du Québec - SantéTakeda Science Foundation
KeywordsExome sequencingCompound heterozygosityMutationBiologyExomeGeneticsGeneGlobal developmental delayTransfectionMolecular biologyPhenotype

Abstract

fetched live from OpenAlex

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 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)0.006
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 score0.096
Threshold uncertainty score0.670

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.006
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.001
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 head0.028
GPT teacher head0.313
Teacher spread0.286 · 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

Citations48
Published2016
Admission routes2
Has abstractyes

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