MétaCan
Menu
Back to cohort
Record W2996300176 · doi:10.1111/j.1755-3768.2019.8071

Disease penetrance in LHON ‐ unravelling the puzzle

2019· article· en· W2996300176 on OpenAlexaff
Rustum Karanjia

Bibliographic record

VenueActa Ophthalmologica · 2019
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsUniversity of Ottawa
Fundersnot available
KeywordsPenetranceLeber's hereditary optic neuropathyDiseasePresentation (obstetrics)MedicineIncidence (geometry)Optic neuropathyGeneticsBiologyOphthalmologyPathologyOptic nervePhysicsSurgeryGeneOptics

Abstract

fetched live from OpenAlex

Abstract Lebers Hereditary Optic Neuropathy (LHON) is the most common hereditary mitochondrial optic neuropathy. The reported incidence is about 1:50 000 but the risk of conversion from the carrier to affected state is in part dependent on the sex of and age of the patient. The proposed reasons for this apparent skewed rate of conversion will be discussed in this presentation.

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)0.000
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: Bench or experimental · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.754
Threshold uncertainty score0.630

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0010.000

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 head0.019
GPT teacher head0.258
Teacher spread0.239 · 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

Citations0
Published2019
Admission routes1
Has abstractyes

Explore more

Same venueActa OphthalmologicaSame topicMitochondrial Function and PathologyFrench-language works237,207