Somatic expansion of the <i>C9orf72</i> hexanucleotide repeat does not occur in ALS spinal cord tissues
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Bibliographic record
Abstract
<h3>Objective</h3> To test for somatic <i>C9orf72</i> hexanucleotide repeat expansion (HRE) and hexanucleotide repeat length instability in the spinal cord of amyotrophic lateral sclerosis (ALS) cases. <h3>Methods</h3> Whole and partial spinal cords of 19 ALS cases were dissected into transversal sections (5 mm thick). The presence of <i>C9orf72</i> HRE was tested in each independent section using RepeatPrimed PCR and amplicon-size genotyping. Index measures for the testing of mosaicism were obtained through serial dilutions of genomic DNA from an individual carrying a germline <i>C9orf72</i> HRE in the genomic DNA of an individual without a <i>C9orf72</i> HRE. <h3>Results</h3> None of the sections examined supported the presence of a subpopulation of cells with a <i>C9orf72</i> HRE. Moreover, the <i>C9orf72</i> hexanucleotide repeat lengths measured were identical across all the spinal cord sections of each individual patient. <h3>Conclusions</h3> We did not observe somatic instability of the <i>C9orf72</i> HRE in disease relevant tissues of ALS cases.
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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 | 0.000 |
| 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 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 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 it