Gene doping is prohibited in horseracing. In a previous study, we developed a method for non-targeted transgene detection using DELLY, which is based on split-read (SR) and paired-end (PE) algorithms to detect structural variants, on WGS data. In this study, we validated the detection sensitivity of DELLY using artificially generated sequence data of 12 target genes. With DELLY, at least one intron was detected as a deletion in eight targeted genes using the 150 bp PE read WGS data, whereas all targeted genes were detected by DELLY using the 100 bp PE read data. The detection sensitivity was higher in 100 bp PE reads than in 150 bp PE reads, despite a lower total sequence coverage, probably because of mismatch tolerance between the mapped reads and reference genome. In addition, it was observed that the average intron size detected by SR alone was 293 bp and that that detected by both SR and PE was 8924 bp. Thus, we showed that transgenes with various intron–exon structures could be detected using DELLY, suggesting its application in gene-doping control in horses.

中文翻译：

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使用 DELLY 对马运动中的基因兴奋剂控制进行无内含子转基因检测的模拟验证

赛马中禁止使用基因兴奋剂。在之前的一项研究中，我们开发了一种使用 DELLY 进行非靶向转基因检测的方法，该方法基于拆分读取 (SR) 和配对末端 (PE) 算法来检测 WGS 数据上的结构变异。在本研究中，我们使用人工生成的 12 个靶基因的序列数据验证了 DELLY 的检测灵敏度。使用 DELLY，使用 150 bp PE 读取 WGS 数据在八个靶基因中检测到至少一个内含子缺失，而 DELLY 使用 100 bp PE 读取数据检测到所有靶基因。尽管总序列覆盖率较低，但 100 bp PE 读数的检测灵敏度高于 150 bp PE 读数，这可能是因为映射读数和参考基因组之间的错配耐受性。此外，观察到仅SR检测到的平均内含子大小为293 bp，SR和PE检测到的平均内含子大小为8924 bp。因此，我们表明使用 DELLY 可以检测到具有各种内含子 - 外显子结构的转基因，表明其在马的基因掺杂控制中的应用。