Abstract：
Abnormal expansion or shortening of tandem repeats can cause a variety of genetic diseases. The use of long DNA reads has facilitated the analysis of disease-causing repeats in the human genome. Long read sequencers enable us to directly analyze repeat length and sequence content by covering whole repeats; they are therefore considered suitable for the analysis of long tandem repeats. Here, we describe an expanded repeat analysis using target sequencing data produced by the Oxford Nanopore Technologies (hereafter referred to as ONT) nanopore sequencer.
摘要：
串联重复序列的异常扩增或缩短可引起多种遗传疾病。长DNA读数的使用促进了对人类基因组中致病重复序列的分析。长读测序仪使我们能够通过覆盖整个重复序列来直接分析重复长度和序列内容;因此,它们被认为适用于长串联重复序列的分析。这里,我们描述了使用牛津纳米孔技术（以下称为ONT）纳米孔测序仪产生的靶测序数据的扩展重复分析。
