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Record W4387357509 · doi:10.1002/ajmg.a.63435

Pathogenic variant in the X‐linked <i>ARR3</i> gene associated with variable early‐onset myopia

2023· article· en· W4387357509 on OpenAlexaffabout
Grace U. Ediae, Caitlin Chisholm, Gabrielle Lemire, Fred Campbell, Kym M. Boycott

Bibliographic record

VenueAmerican Journal of Medical Genetics Part A · 2023
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicRetinal Development and Disorders
Canadian institutionsChildren's Hospital of Eastern OntarioCanadian Optometric Education Trust FundUniversity of Ottawa
Fundersnot available
KeywordsExomeExome sequencingGeneticsGeneDiseaseHavenSafe havenRaw dataBiologyMedicineComputational biologyComputer scienceMutationInternal medicineProgramming languageMathematics

Abstract

fetched live from OpenAlex

The patient raw exome datasets supporting this study haven been deposited in Genomics4RD, Canada's rare disease genomic data repository, and are available through controlled access by contacting the platform (https://www.genomics4rd.ca/).

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 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)0.002
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 score0.098
Threshold uncertainty score0.426

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
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 head0.009
GPT teacher head0.244
Teacher spread0.235 · 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

Citations2
Published2023
Admission routes2
Has abstractyes

Explore more

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