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Record W3098045380 · doi:10.1002/ajmg.a.61962

Discovery of a novel <scp><i>CHD7</i> CHARGE</scp> syndrome variant by integrated omics analyses

2020· article· en· W3098045380 on OpenAlexaff
Jorge L. Granadillo, Daniel Wegner, Alexander J. Paul, Marcia Willing, Kathleen Sisco, Matthew L. Tedder, Bekim Sadiković, Jennifer Wambach, Dustin Baldridge, F. Sessions Cole

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2020
Typearticle
Languageen
FieldMedicine
TopicCongenital Ear and Nasal Anomalies
Canadian institutionsSt Joseph's Health CareSt Joseph's Health CentreLondon Health Sciences Centre
FundersNational Human Genome Research InstituteNational Institutes of Health
KeywordsCHARGE syndromeHaploinsufficiencyBiologyGeneticsExome sequencingEpigeneticsProbandSanger sequencingPhenotypeDNA sequencingGeneMutation

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)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.468
Threshold uncertainty score0.617

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.001
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
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 head0.036
GPT teacher head0.303
Teacher spread0.267 · 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 designBench or experimental
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

Citations10
Published2020
Admission routes1
Has abstractyes

Explore more

Same venueAmerican Journal of Medical Genetics Part ASame topicCongenital Ear and Nasal AnomaliesFrench-language works237,207