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Statistical Methods for the Analysis of Genetic Association Studies

2005· article· en· W1992657963 on OpenAlexafffund
Guangyong Zou

Bibliographic record

VenueAnnals of Human Genetics · 2005
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsRobarts Clinical TrialsWestern University
FundersNatural Sciences and Engineering Research Council of Canada
KeywordsGenetic associationAssociation (psychology)GeneticsBiologyEvolutionary biologyStatistical analysisComputational biologyStatisticsMathematicsGenotypePsychologySingle-nucleotide polymorphismGene

Abstract

fetched live from OpenAlex

This paper applies a retrospective logistic regression model (Prentice, 1976) using a sandwich variance estimator (White, 1982; Zeger et al. 1985) to genetic association studies in which alleles are treated as dependent variables. The validity of switching the positions of allele and trait variables in the regression model is ensured by the invariance property of the odds ratio. The approach is shown to be able to accommodate many commonly seen designs, matched or unmatched alike, having either binary or quantitative traits. The resultant score statistic has potentially higher power than those that have previously appeared in the genetics literature. As a regression model in general, this approach may also be applied to incorporate covariates. Numerical examples implemented with standard software are presented.

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)0.052
metaresearch head score (Gemma)0.217
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Theoretical or conceptual · Consensus signal: none
GenreCandidate signal: Methods · Consensus signal: Methods
Teacher disagreement score0.052
Threshold uncertainty score0.276

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0520.217
Meta-epidemiology (narrow)0.0030.002
Meta-epidemiology (broad)0.0050.003
Bibliometrics0.0090.011
Science and technology studies0.0010.003
Scholarly communication0.0030.002
Open science0.0050.004
Research integrity0.0020.011
Insufficient payload (model declined to judge)0.0340.014

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 head0.120
GPT teacher head0.485
Teacher spread0.366 · 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 designTheoretical or conceptual
Domainnot available
GenreMethods

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

Citations47
Published2005
Admission routes2
Has abstractyes

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