Analyse par séquençage d’exome de familles avec des scolioses
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
A significant genetic involvement has been known for decades in adolescent idiopathic scoliosis (AIS), a spine deformity affecting 1-3% of the world population. However, if bio-mechanical and endocrinological theories have emerged, no clear pathophysiological ex-planation was found. Data from whole exome sequencing performed in 113 individuals in 19 multi-generational families with AIS have been filtered and analyzed via interaction pathways and functional categories analysis (Varaft, Bingo and Panther). The subsequent list of 2566 variants has been compared to the variants already described in the literature, with a 18% matching rate. The familial analysis in two families reveals mutations in BICD2 gene, supporting the involvement of the muscular system in AIS etiology and a mutation in CAMTA2 gene, also found in a Canadian family and with supportive deformities in a CrisprCas9 Zebrafish model. The cellular component analysis revealed significant enrichment in myosin-related and neuronal activities related categories. All together, these results reinforce the suspected role of the neuronal and muscular systems, highlight the calmodulin pathway and suggest a role for DNA-binding activities in AIS physiopathology.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.006 | 0.005 |
| 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 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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 it