Mutations<i>de novo</i>de<i>SYNGAP1</i>associées à la déficience intellectuelle non syndromique
Bibliographic record
Abstract
> La dficience intellectuelle (DI) constitue le handicap svre le plus frquent de l'enfance, et touche 1-2 % de la population. Elle survient avant l'ge de 18 ans et se traduit par un fonctionnement intellectuel significativement infrieur la moyenne accompagn de difficults importantes d'adaptation (communication, soins personnels, comptences domestiques, habilets sociales, aptitudes scolaires et fonctionnelles, etc.) La forme la plus rpandue est la DI non syndromique (DINS), qui n'est associe aucune autre anomalie. En l'absence de signes physiques qui orientent les chercheurs dans leurs explorations, l'identification des gnes autosomiques dominants associs la DINS reprsente un dfi particulier. Les familles dans lesquelles la DI est transmise sur le mode autosomique dominant sont rares en raison d'un taux de reproduction infrieur celui de la population gnrale. Ces mutations autosomiques dominantes pourraient par contre survenir de novo (c'est--dire n'tre pas hrites des parents). De fait, les remaniements chromosomiques de novo reprsentent la cause gntique de DI la plus frquemment identifie. Des mutations ponctuelles de novo pourraient elles aussi contribuer au dveloppement de la DINS. La dtection de ces mutations doit reposer sur leur recherche directe par squenage.
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 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".