The interplay between genomic copy number variants, sleep, and cognition in the general population
Bibliographic record
Abstract
Genomic Copy Number variants (CNVs) increase risk for neurodevelopmental disorders (NDDs) and affect cognition, but their impact on sleep remains understudied despite the well-established link between sleep disturbances, NDDs, and cognition. We investigated the relationship between CNVs, sleep traits, cognitive ability, and executive function in 498,852 individuals from an unselected population in the UK Biobank. We replicated the U-shape relationship between measures of cognitive ability and sleep duration. The effects of CNVs on sleep duration were evident at the genome-wide level; CNV-burden analyses showed that overall, CNVs with an increasing number of intolerant genes were associated with increased or decreased sleep duration in a U-shape pattern (p < 2e −16 ), but did not increase risk of insomnia. Sleep duration only marginally mediated the robust association between CNVs and poorer cognitive performance, suggesting that sleep and cognitive phenotypes may result from pleiotropic effects of CNVs with minimal causal relationship.
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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 | 0.001 | 0.003 |
| 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 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 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".