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Record W2000886495 · doi:10.1097/ede.0b013e3182944dd5

Investigations of Gene–Disease Associations

2013· article· en· W2000886495 on OpenAlexaff
Hao Luo, Igor Burstyn, Paul Gustafson

Bibliographic record

VenueEpidemiology · 2013
Typearticle
Languageen
FieldEnvironmental Science
TopicHealth, Environment, Cognitive Aging
Canadian institutionsUniversity of British Columbia
Fundersnot available
KeywordsDiseaseGenotypeGenetic associationPopulationSample size determinationGene–environment interactionSample (material)Environmental healthBiologyGeneticsStatisticsGeneMedicineSingle-nucleotide polymorphismMathematicsPathology

Abstract

fetched live from OpenAlex

Environmental exposure data may improve statistical power in genetic studies when gene-environment interaction is present. However, resources invested in obtaining exposure data could instead be applied to measure disease status and genotype on more subjects. In a cohort-study setting, we consider the tradeoff between measuring only disease status and genotype for a larger study sample and measuring disease status, genotype, and environmental exposure for a smaller sample, under the gene-environment independence assumption in the study population. We focus on the power of tests for gene-disease association, applied in situations where a gene modifies risk of disease due to environmental exposure. Our results are equally applicable to exploratory genome-wide association studies and to more hypothesis-driven candidate gene investigations. We further consider the impact of misclassification for environmental exposures. We identify circumstances under which higher power is achieved via the larger study sample without measurements of environmental exposure.

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)0.047
metaresearch head score (Gemma)0.126
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 score0.047
Threshold uncertainty score0.249

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0470.126
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0020.002
Bibliometrics0.0030.005
Science and technology studies0.0010.002
Scholarly communication0.0020.003
Open science0.0010.003
Research integrity0.0010.002
Insufficient payload (model declined to judge)0.0060.001

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 head0.063
GPT teacher head0.314
Teacher spread0.251 · 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".

Quick stats

Citations6
Published2013
Admission routes1
Has abstractyes

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