Studies have demonstrated that structural variants (SV) play a substantial role in the evolution of species and have an impact on Mendelian traits in the genome. However, unlike small variants (< 50 bp), it has been challenging to accurately identify and genotype SV at the population scale using short-read sequencing. Long-read sequencing technologies are becoming competitively priced and can address several of the disadvantages of short-read sequencing for the discovery and genotyping of SV. In livestock species, analysis of SV at the population scale still faces challenges due to the lack of resources, high costs, technological barriers, and computational limitations. In this review, we summarize recent progress in the characterization of SV in the major livestock species, the obstacles that still need to be overcome, as well as the future directions in this growing field. It seems timely that research communities pool resources to build global population-scale long-read sequencing consortiums for the major livestock species for which the application of genomic tools has become cost-effective.

中文翻译：

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从长远来看：利用牲畜长读长测序进行结构变异群体规模研究的观点


研究表明，结构变异（SV）在物种进化中发挥着重要作用，并对基因组中的孟德尔性状产生影响。然而，与小变异 (< 50 bp) 不同，使用短读长测序在群体规模上准确识别 SV 并对其进行基因分型一直具有挑战性。长读长测序技术的价格越来越具有竞争力，并且可以解决短读长测序在 SV 发现和基因分型方面的一些缺点。在牲畜物种中，由于资源缺乏、成本高、技术障碍和计算限制，对种群规模的SV分析仍然面临挑战。在这篇综述中，我们总结了主要牲畜物种 SV 表征的最新进展、仍需要克服的障碍以及该发展领域的未来方向。研究界应该集中资源，为主要牲畜物种建立全球群体规模的长读长测序联盟，对于这些物种来说，基因组工具的应用已经变得具有成本效益。