MUTATE: a human genetic atlas of multiorgan artificial intelligence endophenotypes using genome-wide association summary statistics.
Bibliographic record
Abstract
Artificial intelligence (AI) has been increasingly integrated into imaging genetics to provide intermediate phenotypes (i.e. endophenotypes) that bridge the genetics and clinical manifestations of human disease. However, the genetic architecture of these AI endophenotypes remains largely unexplored in the context of human multiorgan system diseases. Using publicly available genome-wide association study summary statistics from the UK Biobank (UKBB), FinnGen, and the Psychiatric Genomics Consortium, we comprehensively depicted the genetic architecture of 2024 multiorgan AI endophenotypes (MAEs). We comparatively assessed the single-nucleotide polymorphism-based heritability, polygenicity, and natural selection signatures of 2024 MAEs using methods commonly used in the field. Genetic correlation and Mendelian randomization analyses reveal both within-organ relationships and cross-organ interconnections. Bi-directional causal relationships were established between chronic human diseases and MAEs across multiple organ systems, including Alzheimer's disease for the brain, diabetes for the metabolic system, asthma for the pulmonary system, and hypertension for the cardiovascular system. Finally, we derived polygenic risk scores for the 2024 MAEs for individuals not used to calculate MAEs and returned these to the UKBB. Our findings underscore the promise of the MAEs as new instruments to ameliorate overall human health. All results are encapsulated into the MUlTiorgan AI endophenoTypE genetic atlas and are publicly available at https://labs-laboratory.com/mutate.
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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 | 0.003 | 0.027 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.005 | 0.008 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.002 | 0.001 |
| Open science | 0.002 | 0.003 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.042 | 0.009 |
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".