Additional file 7 of A validated heart-specific model for splice-disrupting variants in childhood heart disease
Bibliographic record
Abstract
Additional file7: Table S7. High-confidence DNA splice variants in CHD genes in CHD Extension cohort (n=947). Rare (gnomAD v2 allele frequency < 0.0001 and gnomAD v3 PopMax allele frequency < 0.0001) high-confidence splice-disrupting DNA variants in Tier 1 CHD genes or haploinsufficiency-intolerant (pLI≥0.9) Tier 2 CHD genes were identified in the Extension cohort. DNA variants were selected by weighted random forest model 4 (Extension cohort), yielding an additional 42 variants in Tier 1 CHD genes and 79 variants in Tier 2 CHD genes. All variant features used in random forest models are included. Clinical features of the proband harboring each DNA variant are additionally shown.
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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 | 0.002 | 0.014 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.002 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.003 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.511 | 0.137 |
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".