P028: Population-specific structural variation linked to metabolic diseases in people of Pacific ancestry
Bibliographic record
Abstract
B4GALNT3 were associated with increased ALP levels.These findings demonstrate that rare, high-impact variants in genes other than ALPL can bi-directionally influence ALP levels.Conclusion: Our UK Biobank analyses reinforce the strong association of pathogenic ALPL variants and persistently low ALP levels.However, the HPP penetrance of heterozygous hypomorphic ALPL variants, particularly c.571G>A, may be lower than previously reported.This observed lower penetrance may explain why the highly prevalent c.571G>A heterozygous genotype has low frequency in HPP patient cohorts, such as the Global HPP Registry (4.4% of participants).Our rare variant analyses identified additional genetic contributors to ALP levels, expanding on prior common variant analyses, and underscore the polygenic nature of ALP regulation.Future studies should aim to refine HPP penetrance estimates for pathogenic ALPL variants, and to elucidate the contributions of non-ALPL variants to persistently low ALP and HPP.
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How this classification was reachedexpand
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 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| 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 itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, 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".