ИСТИНА

Super-enhancers (SEs) are cis-regulatory regions of the human genome that have received a lot of attention since their discovery. Super-enhancers have been linked to the expression of genes involved in cell differentiation, cell stability maintenance, and cancer. Our goal was to systematise research investigations devoted to the exploration of the structure and functions of super-enhancers, elaborate an improved SE definition for its in silico prediction, and identify future directions of the topic in diverse applications, starting from drug development to clinical use. To begin with, we looked at the fundamental studies that offered experimental data on various diseases and their relationships with specific super-enhancers, classifying them by different nosologies, associated epigenetic marks and therapeutic targets, and cell and tissue types. The investigation of common algorithms of SE search (such as ROSE, imPROSE, and DEEPSEN) and prediction enabled us to collect existing data and propose future algorithmic and experimental enhancements to SE reliability and efficiency.