Bibliographic record
Abstract
This family appears to have an early onset autosomal dominant (AD) RP. There is male to male transmission, which excludes X linked RP.1 Although the man‘s father was diagnosed at an older age this may be because the family was unaware of RP at that time. Once the family is aware of the condition and its presenting symptoms they may present earlier, as would appear to be the case with the girl in question. At age 4 years it is unlikely that there would be any abnormality detected on fundus examination. There are at least 13 genes that cause ADRP. These are listed in Table 1. An updated listing of retinal dystrophy genes is available on RetNet (http://www.sph.uth.tmc.edu/Retnet/home.htm) and OMIM (http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html). View this table: Table 1 Retinitis pigmentosa, autosomal dominant Different approaches can be used to determine the genetic background of a disease depending on the type of samples available. When a family with several affected individuals is available, linkage analysis can be used to include or exclude gene loci of interest. Otherwise, for the more common scenario of sporadic cases, mutational analysis of candidate genes is used. ### Linkage analysis If several family members are available for testing and motivated, then a linkage analysis could be performed for the known loci. Definitely unaffected family members are also useful for this analysis. With just three affected members, it may not be possible to be certain which gene is …
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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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| 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 | 0.001 | 0.002 |
| 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".