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Record W2034114795 · doi:10.2310/7070.2002.19261

Genetic Basis of Familial Meniere's Disease

2002· article· en· W2034114795 on OpenAlexaffvenue
Kevin Fung, Ying Xie, Stephen F. Hall, David Lillicrap, Sherryl A. Taylor

Bibliographic record

VenueThe Journal of Otolaryngology · 2002
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicNatural product bioactivities and synthesis
Canadian institutionsLondon Health Sciences Centre
Fundersnot available
KeywordsAnticipation (artificial intelligence)Human leukocyte antigenMedicineMeniere's diseaseLocus (genetics)GeneticsDiseaseGenetic linkageGenetic markerImmunologyBiologyPathologyAntigenGene

Abstract

fetched live from OpenAlex

The genetic basis of familial Meniere's disease (MD) is unclear. We present a genetic investigation of six individuals in two families with familial MD. Linkage analysis was performed using polymorphic DNA markers linked to the human leukocyte antigen (HLA) locus that map to chromosome 6p. We have demonstrated the presence of anticipation in successive generations and the absence of HLA association. This is the second report of anticipation in familial MD in the literature, and it suggests that efforts should be directed toward finding a trinucleotide expansion as a possible genetic lesion in this uncommon disorder.

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: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.277
Threshold uncertainty score0.266

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)0.0000.000

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 head0.011
GPT teacher head0.214
Teacher spread0.203 · 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

Citations34
Published2002
Admission routes2
Has abstractyes

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