Genes take the lead: genetic testing becomes the gold standard for diagnosing primary ciliary dyskinesia
Bibliographic record
Abstract
Extract Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterised by abnormal ciliary structure or function, leading to impaired mucociliary clearance. The condition primarily affects the respiratory system, where dysfunctional cilia fail to effectively move mucus, microorganisms and particles out of the airways, resulting in chronic respiratory infections, bronchiectasis and rhino-sinusitis. Other associated features include organ laterality defects (e.g. situs inversus totalis or situs ambiguus) from embryonic nodal cilia dysfunction and fertility issues due to defective cilia in the reproductive system. PCD typically presents in early childhood with persistent wet coughing, nasal congestion and recurrent ear infections, necessitating lifelong management to prevent complications [1–3].
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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 | 0.010 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.003 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.012 | 0.012 |
| Insufficient payload (model declined to judge) | 0.008 | 0.010 |
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".