Haplotype structure of the gene locus in Europeans
Bibliographic record
Abstract
Copyright information:Taken from "Deafblindness in French Canadians from Quebec: a predominant founder mutation in the gene provides the first genetic link with the Acadian population"Genome Biology 2007;8(4):R47-R47.Published online 3 Apr 2007PMCID:PMC1895989. Structure of the gene with relative positions of mutations identified in this study and SNPs typed by the HapMap project [30]. Rate (D') of linkage disequilibrium (LD; visualized by haploview program) is represented by different colors (highest rate of LD in dark red and lower LD in light red/white). The marked block defines potential haplotypes between selected SNPs. Note that the orientation of the graphic is opposite to Figure 1b and that SNP alleles are given in reverse complement. Potential haplotypes in the European population (CEU) for four selected SNPs that have been genotyped in our study. F: putative frequency of these haplotypes in CEU as determined in the HapMap project. The 'Acadian allele', c.216G>A, and p.R155X are both located on the most prevalent haplotype predicted to account for 50% of haplotypes. c.238-239insC, c.496+1G>T and c.748_759+5del are located on the second most common haplotype.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot 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.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 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) | 0.016 | 0.001 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
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".