Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs
Bibliographic record
Abstract
Purpose: Genetic variation underlying rare diseases in Arab populations is poorly understood limiting effective carrier screening for recessive disorders, which are prevalent because of high consanguineous rates. Methods: Using the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines, we curated pathogenic (P) and likely pathogenic (LP) variants in 1333 Arab Emirati families (346 internal cohort and 987 from the literature). We also analyzed P/LP variants in 1194 Emirati exomes, calculated allele frequencies, and estimated carrier rates for the associated recessive conditions. Results: (HGNC:34) (4.3%). Using a provisional gene list for carrier screening, based on our analysis, we estimated an at-risk couples rate of 4% to 21%, which varies across different screening panels recommended in other populations. Conclusion: Our findings emphasize the necessity of identifying prevalent diseases in underrepresented populations to develop effective and equitable preventive public health measures, including premarital screening programs.
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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 | 0.002 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.003 | 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".