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Record W1541039644 · doi:10.1016/j.ajhg.2015.04.016

Jump from Pre-mutation to Pathologic Expansion in C9orf72

2015· article· en· W1541039644 on OpenAlexafffund
Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, Philip McGoldrick, Jesse R. McLean, Yana Yunusova, Erin Knock, Danielle Moreno, Christine Sato, Paul M. McKeever, Raphaël Schneider, Julia Keith, Nicolae Petrescu, Paul E. Fraser, Maria Carmela Tartaglia, Matthew Baker, Neill R. Graff‐Radford, Khrista Boylan, Dennis W. Dickson, Ian R. Mackenzie, Rosa Rademakers, Janice Robertson, Lorne Zinman, Ekaterina Rogaeva

Bibliographic record

VenueThe American Journal of Human Genetics · 2015
Typearticle
Languageen
FieldMedicine
TopicAmyotrophic Lateral Sclerosis Research
Canadian institutionsUniversity of British ColumbiaCanada Research ChairsOccupational Cancer Research CentreHealth Sciences CentreSunnybrook Health Science CentreUniversity of Toronto
FundersNational Institute of Neurological Disorders and StrokeW. Garfield Weston FoundationGarfield Weston Foundation
KeywordsC9orf72Trinucleotide repeat expansionAlleleOffspringBiologyGeneticsAmyotrophic lateral sclerosisPopulationHaplotypeFamily historyFrontotemporal lobar degenerationFrontotemporal dementiaDiseaseGenePathologyMedicineInternal medicineDementia

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

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)0.002
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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.014
Threshold uncertainty score0.048

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.002
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.000
Science and technology studies0.0010.001
Scholarly communication0.0010.000
Open science0.0010.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0140.004

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 head0.067
GPT teacher head0.370
Teacher spread0.303 · 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

Citations55
Published2015
Admission routes2
Has abstractno

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