Identification of Mutations in mtDNA from Patients Suffering Mitochondrial Diseases
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
The human mitochondrial genome (see Fig. 1) is a 16,569-bp (base pair) circle of double-stranded DNA (1). It contains genes encoding 2 ribosomal RNAs, 22 transfer RNAs, and 13 structural genes, all of which are subunits of the respiratory chain complexes. Of the 13 structural genes, 7 encode subunits of complex I (NADH-CoQ oxidoreductase), 1 encodes the cytochrome-b subunit of complex III (CoQ-cytochrome-c oxidoreductase), 3 encode subunits of complex IV (cytochrome-c oxidase, or COX), and 2 encode subunits of complex V (ATP synthase). Each of these complexes also contains subunits encoded by nuclear genes, which are imported from the cytoplasm and assembled, together with the mtDNA-encoded subunits, into the respective holoenzymes, which are embedded in the mitochondrial inner membrane. Complex II (succinate dehydrogenase-CoQ oxidoreductase), of which succinate dehydrogenase (SDH) is a component, is encoded entirely by nuclear genes.
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 | 0.001 |
| 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 | 0.000 |
| 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