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Record W4406312686 · doi:10.1212/nxg.0000000000200232

Neonatal Encephalopathy

2025· article· en· W4406312686 on OpenAlex
Anastasia Ambrose, Vanda McNiven, Diane Wilson, Aleksandra Tempes, Mary Underwood, Vann Chau, Andreas Schulze, Agnieszka Wyszyńska, Karl C. Desch, Anna R. Malik, Saadet Mercimek‐Andrews

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueNeurology Genetics · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenomics and Rare Diseases
Canadian institutionsWomen and Children’s Health Research InstituteUniversity of TorontoSickKids FoundationHospital for Sick ChildrenAlberta Health ServicesMcMaster Children's HospitalUniversity of Alberta
FundersNational Heart, Lung, and Blood InstituteUniwersytet WarszawskiInternational Society on Thrombosis and Haemostasis
KeywordsIn silicoGeneEncephalopathyPathogenicityBiologyCopy-number variationGenetic variantsGeneticsMedicineComputational biologyBioinformaticsGenomeInternal medicineGenotype

Abstract

fetched live from OpenAlex

Background and Objectives: Neonatal encephalopathy (NE) is characterized by an abnormal level of consciousness with or without seizures in the neonatal period. It affects 1-6/1,000 live term newborns. We applied genome sequencing (GS) in term newborns with NE to investigate the underlying genetic causes. Methods: We enrolled term newborns according to inclusion/exclusion criteria during their Neonatal Intensive Care admission. We performed GS trio and applied bioinformatic tools. We developed pipelines for manual filters. We applied in silico prediction tools, protein 3D modeling, and functional characterization to assess the pathogenicity of variants. Results: variants may be causative of NE in our study. Discussion: ) that may cause NE. We believe that protein 3D modeling is an important tool to assess the pathogenicity of CNVs and may advance the discoveries of novel genetic diseases. However, functional characterization of missense variants is essential for discoveries of novel genetic diseases. It seems that GS can help identify more candidate genes compared with ES.

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.

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: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.803
Threshold uncertainty score0.474

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 head0.003
GPT teacher head0.227
Teacher spread0.223 · 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