Overlapping clinical phenotypes: the road to identifying dysmorphology signalling pathways and their associated risks
Bibliographic record
Abstract
Germline mutations in HRAS proto‐oncogene cause Costello syndrome Aoki et al. (2005) Nature Genetics 37: 1038–1040 HRAS mutations in Costello syndrome Estep et al. (2006) American Journal of Medical Genetics 10‐A: 8–16 Germline KRAS and BRAF mutations in cardio‐facio‐cutaneous syndrome Niihori et al. (2006) Nature Genetics 38: 294–296 Genotype‐phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases Kerr et al. (2006) Journal of Medical Genetics 43: 401–405 Germline mutations in genes within the MAPK pathway cause cardio‐facio‐cutaneous syndrome Rodriguez‐Viciana et al. (2006) Science 311: 1287–1290
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.
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 | 0.002 | 0.002 |
| 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 | 0.001 |
| 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".