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Record W1557813684 · doi:10.1002/9781118444122.ch30

Neuropsychiatric Disease‐Associated Genetic Variation in the Wnt Pathway

2014· other· en· W1557813684 on OpenAlexaff
Stephen J. Haggarty, Karun K. Singh, Roy H. Perlis, Rakesh Karmacharya

Bibliographic record

Venuenot available
Typeother
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetics and Neurodevelopmental Disorders
Canadian institutionsMcMaster University
FundersStanley Center for Psychiatric Research, Broad Institute
KeywordsGenome-wide association studyWnt signaling pathwayBiologySingle-nucleotide polymorphismCopy-number variationGeneticsGenomeDiseaseGenetic associationExomeExome sequencingComputational biologyMutationGeneMedicineGenotypePathology

Abstract

fetched live from OpenAlex

Owing to advances in our understanding of the human genome and technologies that afford the ability to comprehensively scan the human genome for both single-nucleotide polymorphisms (SNPs) through array-based technologies and now whole exome and even whole genomes, the field of neuropsychiatric genetics has experienced a period of rapid growth and excitement in the past decade that is almost certain to continue for the foreseeable future. This chapter reviews in terms of their connections to Wnt signaling and the hypothesis that dysregulation of the Wnt pathway is involved in both the etiology and pathophysiology of neuropsychiatric disorders found in four major areas: (i) classical cytogenetics, (ii) copy number variants (CNVs), (iii) genome-wide association studies (GWAS) findings, and (iv) de novo single-nucleotide variants (SNVs).

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)0.000
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: Review · Consensus signal: none
Teacher disagreement score0.008
Threshold uncertainty score0.025

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
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 integrity0.0000.000
Insufficient payload (model declined to judge)0.0080.001

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 head0.004
GPT teacher head0.192
Teacher spread0.188 · 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
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

Citations3
Published2014
Admission routes1
Has abstractyes

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