Pathological Short Tandem Repeats Analysis by Long-Read Sequencing in Affected Individuals
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Pathological short tandem repeats (STRs) are repetitive DNA sequences found throughout the genome that can expand and contract in length, resulting in various genetic diseases. These diseases include Huntington's disease, Fragile X syndrome, and myotonic dystrophy, among others. Traditional short-read sequencing technologies have limitations in detecting and accurately characterizing STRs due to their inherent instability and repetitive nature. Long-read sequencing (LRS), on the other hand, can provide a potential solution for accurate and comprehensive STR analysis.