Abstract：
Genomic structural variants (SVs) constitute a significant proportion of genetic variation in the genome. The rapid development of long-reads sequencing has facilitated the detection of long-fragment SVs. There is no published study to detect SVs using long-read data from sheep. We applied a long-read mapping approach to detect SVs and characterized a total of 30,771 insertions, deletions, inversions and translocations. We identified 716, 916, 842 and 303 specific SVs in Southdown sheep, Alpine merino sheep, Qilian White Tibetan sheep and Oula sheep, respectively. We annotated these SVs and found that these SV-related genes were primarily enriched in the well-established pathways involved in the regulation of the immune system, growth and development and environmental adaptability. We detected and annotated SVs based on NGS resequencing data to validate the accuracy based on third-generation detection. Moreover, five candidate SVs were verified using the PCR method in 50 sheep. Our study is the first to use a long-reads sequencing approach to construct a novel structural variation map in sheep. We have completed a preliminary exploration of the potential effects of SVs on sheep.
摘要：
基因组结构变异(SV)构成基因组中遗传变异的显著比例。长读段测序的快速发展促进了长片段SV的检测。没有公开的研究使用来自绵羊的长读数据来检测SVs。我们应用了长读取映射方法来检测SV，并表征了总共30,771个插入，删除,倒置和易位。我们在Southdown绵羊中确定了716、916、842和303个特定的SV，高山美利奴羊,祁连白藏羊和乌拉羊,分别。我们对这些SV进行了注释，发现这些SV相关基因主要富集在免疫系统调节中已建立的通路中，生长发育和环境适应性。我们基于NGS重测序数据检测并注释了SV，以验证基于第三代检测的准确性。此外，使用PCR方法在50只绵羊中验证了5个候选SV。我们的研究是首次使用长读数测序方法在绵羊中构建新的结构变异图。我们已经完成了SVs对绵羊潜在影响的初步探索。
