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Record W2471372949 · doi:10.1016/j.nmd.2016.06.459

Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy

2016· review· en· W2471372949 on OpenAlexafffund
Joseph K. Burns, Rashmi Kothary, Robin J. Parks

Bibliographic record

VenueNeuromuscular Disorders · 2016
Typereview
Languageen
FieldMedicine
TopicNeurogenetic and Muscular Disorders Research
Canadian institutionsUniversity of OttawaOttawa Hospital
FundersMultiple Sclerosis SocietyMultiple Sclerosis Society of CanadaEuropean Genomic Institute for DiabetesGovernment of OntarioCanadian Institutes of Health ResearchCancer Research SocietyUniversity of OttawaCure SMANatural Sciences and Engineering Research Council of CanadaMuscular Dystrophy Association
KeywordsSMN1Spinal muscular atrophySMA*MedicineDiseaseBioinformaticsAtrophyDegeneration (medical)Motor neuronNeuroscienceInternal medicinePathologyBiology

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 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)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.988
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.002
Bibliometrics0.0000.000
Science and technology studies0.0010.001
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0000.001
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 head0.061
GPT teacher head0.377
Teacher spread0.316 · 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.

Study designOther design
Domainnot available
GenreReview

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

Citations22
Published2016
Admission routes2
Has abstractno

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