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ISDN2014_0418: DNA methylation changes in fetal alcohol spectrum disorder

2015· article· en· W2748454421 on OpenAlexaff
Élodie Portales-Casamar, Sarah M Mah, Julie L. MacIsaac, Amina Barhdadi, Sylvie Provost, Marie‐Pierre Dubé, James N. Reynolds, Paul Pavlidis, Michael S. Kobor

Bibliographic record

VenueInternational Journal of Developmental Neuroscience · 2015
Typearticle
Languageen
FieldMedicine
TopicPrenatal Substance Exposure Effects
Canadian institutionsUniversité de MontréalMontreal Heart InstituteQueen's UniversityUniversity of British Columbia
Fundersnot available
KeywordsColumbia universityResearch centreLibrary scienceHistoryMedia studiesSociology

Abstract

fetched live from OpenAlex

Prenatal alcohol exposure is a major, preventable cause of behavioural and cognitive deficits in children. Despite extensive research, a unique neurobehavioural profile for children affected by prenatal alcohol exposure remains elusive. The NeuroDevNet Fetal Alcohol Spectrum Disorder (FASD) project is investigating how genetic and environmental factors interact with gestational alcohol exposure to produce neurobehavioural and neurobiological deficits in children. To investigate differences in DNA methylation between FASD cases and controls and gain understanding in the molecular mechanisms underlying brain function. The epigenetics cohort included 214 children from 5 to 18 years of age (112 FASD:102 Control). DNA methylation was assessed using the Illumina HumanMethylation450 array on DNA extracted from buccal swabs. Each child also completed an extensive battery of psychometric tests, neuroimaging, and novel eye tracking assessments. We identified 1661 differentially methylated probes. After correcting for confounding effects of genetic background we were left with 658 significantly differentially methylated probes that were further investigated for biological significance. Five of these probes were selected for verification with pyrosequencing and confirmed our results. Enrichment analyses using the genes up-methylated in FASD show a significant enrichment in genes associated with neurodevelopmental processes and diseases. This finding could reflect the fact that these genes are generally involved in brain development and affected in FASD cases.

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)0.001
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 score0.014
Threshold uncertainty score0.045

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.001
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 integrity0.0010.000
Insufficient payload (model declined to judge)0.0140.002

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 head0.035
GPT teacher head0.307
Teacher spread0.272 · 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".

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Citations4
Published2015
Admission routes1
Has abstractno

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Same venueInternational Journal of Developmental NeuroscienceSame topicPrenatal Substance Exposure EffectsFrench-language works237,207