ABSTRACT

The development of genome scanning technologies and advanced bioinformatics approaches yielded high-resolution analyses of genomes. Thus, new types of complex chromosomal rearrangements have been identified in recent years. These novel structures, which gathered under the term Chromoanagenesis and examined under subcategories such as Chromothripsis, Chromoanasynthesis, and Chromoplexy according to their formation mechanisms and distinct structural features. These rearrangements are reported in cancer genomes and some congenital diseases. Although certain features have been determined to distinguish each subcategory from the other, backgrounds of these chromosomal rearrangement phenomena are not yet clearly understood. To better understand the nature of Chromoanagenesis and its relationship with diseases, there is a need for the development of new bioinformatics algorithms, data visualization tools, a holistic analysis of the previous findings, and the development of experimental models. Thus, the effects of these structural phenomena in disease development and their potential in diagnosis, treatment, and staging can be explored.