A brief survey of tools for genomic regions enrichment analysis
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Bibliographic record
Abstract
Functional enrichment analysis or pathway enrichment analysis (PEA) is a bioinformatics technique which identifies the most over-represented biological pathways in a list of genes compared to those that would be associated with them by chance. These biological functions are found on bioinformatics annotated databases such as The Gene Ontology or KEGG; the more abundant pathways are identified through statistical techniques such as Fisher’s exact test. All PEA tools require a list of genes as input. A few tools, however, read lists of genomic regions as input rather than lists of genes, and first associate these chromosome regions with their corresponding genes. These tools perform a procedure called genomic regions enrichment analysis , which can be useful for detecting the biological pathways related to a set of chromosome regions. In this brief survey, we analyze six tools for genomic regions enrichment analysis (BEHST, g:Profiler g:GOSt, GREAT, LOLA, Poly-Enrich, and ReactomePA), outlining and comparing their main features. Our comparison results indicate that the inclusion of data for regulatory elements, such as ChIP-seq, is common among these tools and could therefore improve the enrichment analysis results.
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Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 it