Bibliographic record
Abstract
Cystic fibrosis (CF) is a common genetic disorder, caused by mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene encodes a transmembrane chloride channel, which is important for key physiological functions, such as production of sweat and mucus, as well as mucociliary clearance in the lungs (1). Affected individuals are homozygous for mutated copies of CFTR and are at elevated risk for a variety of diseases, including bronchiectasis and repeated pulmonary infection; gastrointestinal disorders, including malabsorption and nutritional deficiency states; and pancreatitis and diseases of the hepatobiliary system (1). While management of CF has improved drastically in recent decades, individuals with CF experience reduced life expectancy relative to the general population (2). The prevalence of carrier state of mutated CFTR genes is high [greater than 3% in some subpopulations (3)], leading to the suggestion that the carrier state must be positively selected for due to positive health effects, analogous to protection against malaria conferred by carrier states in sickle cell anemia (4, 5). CF has been regarded as a classical autosomal recessive disorder, with no adverse health effects associated with the carrier state. I use the past tense, because in PNAS Miller et al. (6) provide convincing evidence that CF heterozygosity may represent a haploinsufficiency state, analogous to that seen with thalassemia, where individuals with a single copy of the disease-causing allele do suffer adverse health effects, presumably due to production of the gene’s product at lower levels than would be seen in noncarriers. Beta-thalassemia is an autosomal recessive disorder of hemoglobin, but the carrier state is often characterized as “thalassemia minor” with individuals experiencing … [↵][1]1Email: david.fisman{at}utoronto.ca. [1]: #xref-corresp-1-1
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.
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 | 0.001 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 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 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".