GSEA Paper: Subramanian et al. (2005). Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles. PNAS. [PDF].
Mootha et al. (2003). PGC-1-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat. Genetics. [PDF]
Liberzon et al. (2015). The Molecular Signature Database (MSigDB) hallmark gene set collection. Cell Systems. 1(6): 417-425. [PDF]
Variations & Expansions:
Irizarry et al. (2009). Gene set enrichment analysis made simple. Stat Methods Med Res. 18(6): 565-575. [PDF]
Hanzelmann et al. (2013). GSVA: gene set variation analysis for microarray and RNA-seq data. BMC Bioinformatics. 14: Article number: 7. [PDF][SLIDES BY HUI 10162025]
Powers et al. (2018). GSEA-InContext: identifying novel and common patterns in expression experiments. Bioinformatics. 34(13): i555-i564. [PDF]
Cousins et al. (2023). Gene set proximity analysis: expanding gene set enrichment analysis through learned geometric embeddings, with drug-repurposing applications in COVID-19. Bioinformatics. 39(1): btac735. [PDF]
Applications:
Ma et al. (2020). Integrative differential expression and gene set enrichment analysis using summary statistics for scRNA-seq studies. Nature Communications. 11: Article number: 1585. [PDF]
Franchini et al. (2023). Single-cell gene set enrichment analysis and transfer learning for functional annotation of scRNA-seq data. NAR Genomics and Bioinformatics, 5(1): lqad024. [PDF]
Fan et al. (2024). irGSEA: the integration of single-cell rank-based gene set enrichment analysis. Briefings in Bioinformatics. 25)4_: bbae243. [PDF][SLIDES BY MIN 10022025]
AI:
Joachimiak et al. (2024). Gene Set Summarization using Large Language Models. ArXiv:2305.13338v3. [PDF][SLIDES BY JENNY 09182025]
Wang et al. (2025). GeneAgent: self-verification language agent for gene-set analysis using domain databases. Nature Methods. 22:1677-1685. [PDF]
Lamb et al. (2006). The Connectivity Map: Using Gene-Expression Signatures to Connect Small Molecules, Genes, and Disease. Science. 313(5795):1929-1935.
[PDF]
Subramaniam et al. (2017). A Next Generation Connectivity Map: L1000 Platform and the First 1,000,000 Profiles. Cell. 171(6):1437-1452.e17.
[PDF]
Variations & Expansions:
Sirota et al. (2011). Discovery and preclinical validation of drug indications using compendia of public gene expression data. Science Translational Medicine. 3(96):96ra77. [PDF]
Kim et al. (2014). Bioinformatics-driven discovery of rational combination for overcoming EGFR-mutant lung cancer resistance to EGFR therapy. Bioinformatics. 30(17):2393-2398. [PDF]
Abelin et al. (2016). Reduced-representation Phosphosignatures Measured by Quantitative Targeted MS Capture Cellular States and Enable Large-scale Comparison of Drug-induced Phenotypes. Molecular Cellular Proteomics. 15(5): 1622-1641. [PDF]
De Abrew et al. (2019). Use of connectivity mapping to support read across: A deeper dive using data from 186 chemicals, 19 cell lines and 2 case studies. Toxicology. 423:84-94. .[PDF]
He et al. (2023). ASGARD is A Single-cell Guided Pipeline to Aid Repurposing of Drugs. Nature Communications. Article Number 993. [PDF]
Applications:
Jahchan et al. (2013). A Drug Repositioning Approach Identifies Tricyclic Antidepressants as Inhibitors of Small Cell Lung Cancer and Other Neuroendocrine Tumors. Cancer Discovery. 3(12):1364-1377. [PDF]
Dudley et al. (2011). Computational repositioning of the anticonvulsant topiramate for inflammatory bowel disease. Science Translational Medicine. 3(96):96ra76. [PDF]
Wang et al. (2021). Tumor immunological phenotype signature-based high-throughput screening for the discovery of combination immunotherapy compounds. Science Advances. 7(4). DOI: 10.1126/sciadv.abd7851. [PDF]
AI:
Kraus et al. (2025). RxRx3-core: Benchmarking drug-target interactions in High-Content Microscopy. arXiv:2503.20158v2. [PDF]
Chandrasekaran et al. (2025). Morphological map of under- and overexpression of genes in human cells. Nature Methods. 22:1742-1752. [PDF]
Ren et al. (2024). A small-molecule TNIK inhibitor targets fibrosis in preclinical and clinical models. Nature Biotechnology. 43:63-75. [PDF]
Xu et al. (2025). A generative AI-discovered TNIK inhibitor for idiopathic pulmonary fibrosis: a randomized phase 2a trial. Nature Medicine. 31:2602-2610. [PDF]