Additional file 5 of Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Bibliographic record
Abstract
Additional file 5: Figure S5. DYT28 episignature identification excluding samples with missense KMT2B variants. (A) Hierarchical clustering with Ward’s method on Euclidean distance was performed. In the heatmap plot, each row illustrates a selected CpG site, and each column depicts a sample. The heatmap color scale indicates the range of methylation level; from blue (no methylation or 0) to red (full methylation or 1). The detected episignature clearly differentiates between samples with pathogenic KMT2B variants and controls. (B) The first two dimensions of a MDS plot using the selected probes separate the samples with pathogenic variants in KMT2B from control samples. Blue circles represent control subjects and red circles indicate subjects with pathogenic KMT2B variants and a confirmed diagnosis of DYT28. Ellipses indicate 95% confidence interval.
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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 | 0.001 | 0.021 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.003 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.002 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.870 | 0.135 |
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".