Fine mapping of the disseminated superficial porokeratosis locus to a 2.7 Mb region at 18p11.3
Bibliographic record
Abstract
Disseminated superficial porokeratosis (DSP) is an autosomal dominant epidermal keratinization disorder. The genetic basis for DSP has not been clearly elucidated. We previously mapped the locus for DSP to a large region (5.7 Mb) at 18p11.3 in a four-generation Chinese family with DSP, but no gene responsible for porokeratosis has been identified to date. To narrow the critical region for DSP, thereby facilitating the identification of this disease gene and possibly leading to an understanding of the pathogenesis of porokeratosis, genotyping was performed on the same Chinese family with DSP using nine heterozygous single-nucleotide polymorphism markers at 18p11.3. We found the locus of DSP to be located within a 2.7 Mb region between markers rs58085394 and rs238533. Our study provides a map location for isolation of a gene causing DSP.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".