Long-read sequencing platforms provide unparalleled access to the structure and composition of all classes of tandemly repeated DNA from STRs to satellite arrays. This review summarizes our current understanding of their organization within the human genome, their importance with respect to disease, as well as the advances and challenges in understanding their genetic diversity and functional effects. Novel computational methods are being developed to visualize and associate these complex patterns of human variation with disease, expression, and epigenetic differences. We predict accurate characterization of this repeat-rich form of human variation will become increasingly relevant to both basic and clinical human genetics.
Advances in the discovery and analyses of human tandem repeats
Mark J.P. Chaisson, Arvis Sulovari, Paul N. Valdmanis, Danny E. Miller, Evan E. Eichler; Advances in the discovery and analyses of human tandem repeats. Emerg Top Life Sci 14 December 2023; 7 (3): 361–381. doi: https://doi.org/10.1042/ETLS20230074
Download citation file: