Machine learning-assisted gene set enrichment analysis
Machine learning-assisted gene set enrichment analysis (ML-GSEA) extends the classical GSEA framework by incorporating supervised or unsupervised ML models — such as random forests, neural networks, or deep learning architectures — to improve the detection, ranking, and biological interpretation of enriched gene sets from high-throughput expression data. The approach is particularly valuable for complex, non-linear gene-set relationships that classical enrichment statistics may miss.
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- Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., & Mesirov, J. P. (2005). Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles. Proceedings of the National Academy of Sciences, 102(43), 15545–15550. · DOI 10.1073/pnas.0506580102
- Ma, J., Yu, M. K., Fong, S., Ono, K., Sage, E., Demchak, B., Sharan, R., & Ideker, T. (2018). Using deep learning to model the hierarchical structure and function of a cell. Nature Methods, 15(4), 290–298. · DOI 10.1038/nmeth.4627
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