Pathway Analysis for unraveling Complex Diseases: Current State and Future Perpectives

Network-based computational approaches under the Systems biology perspective offer important insights to explore deeper the various biological processes and complex human diseases. The predominant process of these networks is the Pathway Analysis, a family of Systems Biology methods, intended to give meaning to high-throughput biological data. Nowadays, the Pathway Analysis area has shifted to a new generation, the fourth, which identifies “active subpathways” - in the form of local substructures within pathways – related to a case under study. Although subpathway-based methods have been extensively reviewed, this field remains up to date, and shortly its popularity will skyrocket because of the growth rate of experimental data at the molecular level, such as the single-cell RNA-seq data. Towards this direction, in this work, we highlight the current state of the emerging subpathway analysis field while we identify major challenges that the next generation of methods should consider.