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
Choroideremia is a chorioretinal degeneration displaying X-linked recessive inheritance. In recent years, technological advances have increased the accessibility of genetic testing for mutations in the gene that lead to this disorder. The disorder itself, approaches for its detection and the steps and the rationale behind testing are outlined in this review. All mutations in the choroideremia gene result in the truncation or absence of the normal protein product Rab escort protein-1, which is a component of Rab geranylgeranyltransferase, an enzyme complex that mediates correct intracellular vesicular transport. Sequence analysis of the 15 exons of the choroideremia gene and adjacent splice sites is a primary method of mutation detection used by the authors' laboratory, through which a variety of mutations including nonsense mutations, insertions, deletions and splice site alterations have been detected. Alternatively, if no mutations are revealed using this approach, reverse transcription PCR, northern blot analysis or a protein truncation test can be employed to detect aberrantly spliced products. Immunoblot analysis can also be performed to confirm the absence of Rab escort protein-1 in affected males. Deletions create a practical problem in assessing the carrier status of females; linkage analysis with closely linked markers is the most practical approach in these cases.
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 | 0.000 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| 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 it