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Record W4284990462 · doi:10.1038/s41420-022-01114-1

Common huntingtin-related genetic variation is associated with neurobiological and aging traits in humans

2022· article· en· W4284990462 on OpenAlexafffund
Alana N. Slike, Galen E.B. Wright

Bibliographic record

VenueCell Death Discovery · 2022
Typearticle
Languageen
FieldNeuroscience
TopicGenetic Neurodegenerative Diseases
Canadian institutionsUniversity of ManitobaHealth Sciences Centre
FundersCanadian Institutes of Health ResearchNatural Sciences and Engineering Research Council of CanadaCanada Research ChairsGovernment of CanadaHealth Sciences Centre Foundation
KeywordsBiologyVariation (astronomy)Genetic variationEvolutionary biologyGeneticsNeurosciencePsychologyGene

Abstract

fetched live from OpenAlex

The conserved huntingtin gene ( HTT ) is known for its role in the neurodegenerative disorder Huntington disease (HD) [ 1 ]. This disease is caused by expansions of the polyglutamine (polyQ) tract in exon one of HTT , primarily encoded by CAG repeats [ 1 , 2 ]. Repeat length predicts the age of HD onset, with longer lengths associated with earlier HD onset on average [ 3 ]. CAG repeat length is variable in humans, individuals affected by HD have an expansion of 36 or more CAG repeats [ 4 ]. Therefore, we read with interest the recent study by Iennaco et al., which examined the function and evolutionary aspects of non-pathogenic HTT CAG repeats [ 5 ].

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.002
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0020.000

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 head0.022
GPT teacher head0.233
Teacher spread0.211 · 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 source (direct Gemma or distilled Codex), 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

Citations4
Published2022
Admission routes2
Has abstractyes

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