Unveiling interpretable development-specific gene signatures in the developing human prefrontal cortex with ICGS
Bibliographic record
Abstract
In this paper, to unveil interpretable development-specific gene signatures in human PFC, we propose a novel gene selection method, named Interpretable Causality Gene Selection (ICGS), which adopts a Bayesian Network (BN) to represent causality between multiple gene variables and a development variable. The proposed ICGS method combines the positive instances-based contrastive learning with a Variational AutoEncoder (VAE) to obtain this optimal BN structure and use a Markov Blanket (MB) to identify gene signatures causally related to the development variable. Moreover, the differential expression genes (DEGs) are used to filter redundant genes before gene selection. In order to identify gene signatures, we apply the proposed ICGS to the human PFC single-cell transcriptomics data. The experimental results demonstrate that the proposed method can effectively identify interpretable development-specific gene signatures in human PFC. Gene ontology enrichment analysis and ASD-related gene analysis show that these identified gene signatures reveal the key biological processes and pathways in human PFC and have more potential for neurodevelopment disorder cure. These gene signatures are expected to bring important implications for understanding PFC development heterogeneity and function in humans.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.000 | 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".