Genetics of Idiopathic Scoliosis
Bibliographic record
Abstract
Abstract Genetic approaches to complex diseases are subject to the currently available technological innovations, and successes or failures using these approaches influence our hypotheses for the genetic contributions to complex diseases. Common complex diseases with a genetic contribution result in the bulk of healthcare expenses through chronic care. It is thought that an understanding of the genetic contributions to common complex diseases will allow for advances in disease prevention, mitigation of disease pathogenesis and curative treatments. The authors discuss genetic approaches to complex diseases from the perspective of idiopathic scoliosis, a prevalent vertebral deformity syndrome that involves the integration of clinical, psychological, mechanical, and basic science disciplines. The authors focus specifically on the different hypotheses and approaches for genetic study, drawing on past studies and discussing possible future studies, with consideration of technological innovations. Key Concepts: The genetic basis of idiopathic scoliosis is not well understood. Idiopathic scoliosis is a complex deformity syndrome with a complex genetic component. Idiopathic scoliosis is the most common form of human spinal deformity. IS imposes a substantial healthcare cost through bracing, hospitalisations, surgery and chronic back pain. Identification of IS genes might lead to innovations in screening and treatment.
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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) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".