In recent years, the knowledge generated by decoding the human genome has allowed groundbreaking genetic research to better understand genomic architecture and heritability in healthy and disease states. The vast amount of data generated over time and yet to be generated provides the basis for translational research towards the development of preventive and therapeutic strategies for many conditions. In this special issue, we highlight the discoveries of disease-associated and protective DNA variations in common human diseases and developmental disorders.
Keywords: alternative splicing and mRNA stability; alternative transcriptional start site; coding DNA variations; genomic evolution; noncoding DNA variations; post-transcriptional and -translational regulation.