Variance Formulae for Correlation Measures of Linkage Disequilibrium
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Bibliographic record
Abstract
BACKGROUND: Linkage disequilibrium (LD) is the non-random association between alleles at different loci and remains important for disease mapping studies in humans. A common measure of LD is the sample correlation between indicator variables for alleles at the 2 loci. Knowledge of LD estimate precision may help inform biomedical decisions based on those estimates. OBJECTIVES AND METHODS: Variance formulae are obtained for correlation measures of LD in 4 scenarios. These scenarios include data in the form of gametic and genotypic counts, with different assumptions used to simplify the analysis. RESULTS: The formulae are expressed as polynomials (or ratios of polynomials) in higher-order disequilibrium coefficients with constants which are functions of the allele frequencies and Hardy-Weinberg disequilibrium coefficients. With genotypic data, the variance is the same as with gametic data when the phase is known and there is random mating. When the phase is unknown, the correlation LD has variance which is twice as large. CONCLUSIONS: Symbolic computation proved to be effective in facilitating algebraic derivations which would otherwise have been intractable.
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Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it