GESgnExt: Gene Expression Signature Extraction and Meta-Analysis on Gene Expression Omnibus

The gene expression omnibus (GEO) repository harbours an exponentially increasing number of gene expression studies. The expression data, as well as the related metadata, provides an abundant resource for knowledge discovery. Each study in GEO focuses on the gene expression perturbation of a specific subject (e.g., gene, drug, and disease). The identification of those subjects and the associations among them are beneficial for further in-depth studies. However, they cannot be directly inferred from the studies. A unified representation of those subjects (i.e., gene expression signatures) is desired. We developed GESgnExt for the automatic construction of gene expression signatures. The resultant 6542 signatures are built on 1934 series and 35 919 samples from GEO. To evaluate its significance, we calculated the similarities among those signatures and compared the discovered associations against the existing interaction databases. The signatures connect the genes, drugs, and diseases, covering most of the experimentally validated interactions. Besides, we have discovered 3307 novel signatures and their related associations, complementing the existing signature knowledge. The biomedical relevance of GESgnExt is demonstrated further in multiple case studies, providing mechanistic insights into its knowledge discovery process.