Human Interphase Cytogenomics

Landmark discoveries in chromosome biology are intimately associated with introducing novel molecular technologies. Cytogenetic analysis remains the gold standard for technological advances in human genetics. However, since the resolution of the analysis is rather low (~5 Mb), numerous molecular technologies with a higher resolution have been introduced to cytogenetics. Among these, there is interphase fluorescence in situ hybridization, which has also become a “must-use” platform for studying human chromosomes in interphase. Subsequently, techniques for analyzing spatial chromatin organization (C techniques) and whole genomes at cellular level (single-cell array and sequencing techniques) have been developed. Although these methods have become technological breakthroughs, numerous structural and functional aspects of chromosomal organization in interphase remain to be elucidated. Here, the role of interphase chromosomal analysis in contemporary biomedicine is assessed. It is generally accepted that nuclear chromosome organization contributes to almost all key intranuclear processes in health and disease. Additionally, interphase chromosomal analysis sheds light on intercellular and interindividual genome variability. Acknowledging the trend in molecular cytogenetics initiated more than a decade ago, we have rebranded human interphase cytogenetics. Accordingly, the term has been changed to human interphase cytogenomics. The rebranded research area integrates data on chromosomes acquired by visualization, array/sequencing, and bioinformatics assays for understanding the 3D genome, molecular/cellular pathways, and phenome in health and disease.