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Statistical Methods for the Analysis of Genetic Association Studies

2005· article· en· W1992657963 on OpenAlex

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.
fundA Canadian funder is recorded on the work.

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.

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)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation 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 score0.457
Threshold uncertainty score0.371

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
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 head0.120
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