Bibliographic record
Abstract
Proteus Syndrome is a rare overgrowth syndrome in which tumors are a prominent feature. Proteus syndrome comprises an association of asymmetrical gigantism, verrucous epidermal naevi, vascular malformations, hamartomas and hyperostosis. There is no known molecular basis for this overgrowth syndrome but several reports have suggested abnormalities of chromosome 1 could play a role and the abnormal regulation of growth factors could also be important. We obtained paired and unpaired DNA samples from seven cases of Proteus syndrome from Montreal and Greenwood Genetics Center, South Carolina. In all analyses, we compared simultaneously DNA from affected and unaffected areas from these children. Direct sequencing was used to look at somatic mutation or other alterations in growth, apoptosis or tumor suppressor genes, such as PTEN, GPC3 and CDKN1C. A genome-wide, 10cM 388 marker microsatellite screen were performed to uncover putative somatic genomic microdeletions or other rearrangements by comparing the allelotype of the affected and unaffected tissues from Proteus syndrome patients.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 0.001 |
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".