Disease gene identification by using graph kernels and Markov random fields
Bibliographic record
Abstract
Genes associated with similar diseases are often functionally related. This principle is largely supported by many biological data sources, such as disease phenotype similarities, protein complexes, protein-protein interactions, pathways and gene expression profiles. Integrating multiple types of biological data is an effective method to identify disease genes for many genetic diseases. To capture the gene-disease associations based on biological networks, a kernel-based MRF method is proposed by combining graph kernels and the Markov random field (MRF) method. In the proposed method, three kinds of kernels are employed to describe the overall relationships of vertices in five biological networks, respectively, and a novel weighted MRF method is developed to integrate those data. In addition, an improved Gibbs sampling procedure and a novel parameter estimation method are proposed to generate predictions from the kernel-based MRF method. Numerical experiments are carried out by integrating known gene-disease associations, protein complexes, protein-protein interactions, pathways and gene expression profiles. The proposed kernel-based MRF method is evaluated by the leave-one-out cross validation paradigm, achieving an AUC score of 0.771 when integrating all those biological data in our experiments, which indicates that our proposed method is very promising compared with many existing methods.
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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 | 0.005 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.003 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| 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".