Genetics in microphthalmia
Bibliographic record
Abstract
Summary Congenital malformations of the eye comprise a wide spectrum of developmental defects. Anophthalmia‐microphthalmia (AM) is the most severe end of these conditions. The different ocular malformations are thought to be part of an overlapping spectrum of embryonic developmental defects. Phenotypic overlap is emphasized by molecular results demonstrating that the same genes may lead to variable defects. We aimed at delineating the molecular bases of AM in order to improve knowledge on eye development as well as patient care. We follow one of the largest cohort of ocular developmental defects cases with extensive clinical and genetic analyses and report here extensive genetics analysis delineating a valuable genetic epidemiology of AM triggering genes. To date a genetic cause is identified in less than half of the patients suffering AM. The most likely explanation for this is that only a small proportion of causative genes have been identified. That is, we report here the strategy used to identify novel AM genes among rare and mainly sporadic patients. This led highlighting the malformation spectrum of already known genes and delineating original pathways respectively involved in retinoic acid metabolism and Sonic Hedgehog signalling.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 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) | 0.000 | 0.000 |
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 teacher head, 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".