Genetic heterogeneity analysis using genetic algorithm and network science
Bibliographic record
Abstract
Genome-wide association studies (GWAS) have linked thousands of genetic variants to the susceptibility of many common human diseases. However, the genetic explanations of diseases are often heterogeneous, imposing a substantial challenge for GWAS. We propose a feature construction method using genetic algorithm (GA) to recognize the heterogeneous risk effects of different genetic variable groups. Multiple GA-based feature selection runs are used to collect an ensemble of the high-performing feature subsets. We generate a feature co-selection network from the ensemble, where nodes represent genetic variables and edges represent their co-selection frequencies. A new synthetic feature, namely community risk score (CRS), is created for each network community. CRS quantifies the risk of a community of variables and allows for more effective heterogeneity analysis. We applied our method to two colorectal cancer GWAS datasets, one for training and the other for validation. We ran the GA-based feature selection on the training dataset and constructed the co-selection network. CRS was then created for each community in the network. We identified three colorectal cancer subtypes using the CRSs and clustering algorithms on the validation dataset. The function enrichment analysis in our results further highlighted gastric cancer related genes, tumor suppressors and DNA methylation genes.
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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 | 0.010 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.004 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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".