P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1
Bibliographic record
Abstract
Peroxisomal disorders encompass a clinically and genetically heterogeneous group of disorders caused by impaired peroxisome biogenesis or function. The most common, Adrenoleukodystrophy (ALD), caused by pathogenic variants in ABCD1 gene (OMIM 300371) on the X chromosome, has been included in newborn screening programs in 39 US states since 2013. This has dramatically increased the presymptomatic detection of ALD and other peroxisomal disorders. Furthermore, genetic confirmation with next-generation sequencing has led to a rising number of variants in genes causing peroxisomal disorders, which need to be properly classified.
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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 | 0.031 | 0.095 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.005 |
| Bibliometrics | 0.007 | 0.005 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.005 | 0.003 |
| Open science | 0.007 | 0.004 |
| Research integrity | 0.010 | 0.008 |
| Insufficient payload (model declined to judge) | 0.037 | 0.045 |
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".