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Record W4390940573 · doi:10.21203/rs.3.rs-3840638/v1

Expanding the phenotypic spectrum of NOTCH1 variants: Clinical manifestations in families with congenital heart disease

2024· preprint· en· W4390940573 on OpenAlexafffund
Rebekah Jobling, Kaitlin Stanley, Kelsey Kalbfleisch, Olivia Moran, Rajiv Chaturvedi, Maian Roifman, Roozbeh Manshaei, Nicole Martin, Simina McDermott, Vanda McNiven, Diane Myles‐Reid, Lynne E. Nield, Miriam S. Reuter, M. Schwartz, Patrick Shannon, Rachel Silver, Cherith Somerville, Ronni Teitelbaum, Laura Zahavich, Anne S. Bassett, Raymond H. Kim, Seema Mital, David Chitayat

Bibliographic record

VenueResearch Square · 2024
Typepreprint
Languageen
FieldMedicine
TopicMedical Imaging and Pathology Studies
Canadian institutionsCentre for Addiction and Mental HealthHospital for Sick Children
FundersSickkids Research InstituteCanadian Institutes of Health ResearchHospital for Sick ChildrenMcMaster UniversityHeart and Stroke Foundation of Canada
KeywordsTetralogy of FallotMedicineProbandPenetranceHeart diseasePediatricsInternal medicineGeneticsPhenotypeBiologyMutation

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)0.003
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesResearch integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.042
Threshold uncertainty score0.999

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0030.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
Science and technology studies0.0000.002
Scholarly communication0.0000.000
Open science0.0000.001
Research integrity0.0000.003
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 head0.117
GPT teacher head0.467
Teacher spread0.350 · 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 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

Citations1
Published2024
Admission routes2
Has abstractno

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