Impact of genome plasticity on health and disease

In recent years, it has been shown that the human genome has multiple mechanisms of plasticity to regulate gene and protein expression. Multiple large genomic, transcriptomic, and epigenomic experiments have shown multiple layers of complexity in the organization of the human genome and in the regulation of its function. Mechanisms of genome plasticity include DNA methylation, noncoding RNAs, DNA variants, chromatin, and histone modifications. Genome plasticity has been associated with multiple human diseases and related phenotypes. Human genomics has led to large advances in a deeper understanding of the etiology and pathophysiology of human diseases. Identification of novel associations of mechanisms of genome plasticity with human diseases would lead to a deeper understanding of their pathophysiology and etiology to develop future diagnostic and therapeutic strategies with better performance for multiple human diseases.