Repetitive motifs, also known as tandem repeats, are stretches of DNA that are repeated multiple times in a row within a genome. These motifs have important functional and clinical implications in human genomes, including their involvement in genetic disorders such as Huntington‘s disease, Fragile X syndrome or myotonic dystrophies. Reliable and accurate characterization of these motifs, especially on genome scales, has remained a challenge due to their structural complexity and variability. In this review, we explore the possibilities of various molecular methods for the reliable characterization of clinically-relevant repetitive motifs, including molecular biology techniques, high-throughput sequencing technologies and bioinformatics tools.

Keywords: tandem repeats, conventional TR genotyping, massively parallel sequencing