Agriculture Victoria, AgriBio, Centre for AgriBioscience, Bundoora, VIC, 3083, Australia.
School of Applied Systems Biology, La Trobe University, Bundoora, VIC, 3083, Australia.
Genet Sel Evol. 2023 Jan 31;55(1):9. doi: 10.1186/s12711-023-00783-5.
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.
研究表明,结构变异(SV)在物种进化中起着重要作用,并对基因组中的孟德尔性状产生影响。然而,与小于 50bp 的小变异不同,使用短读测序在群体水平上准确识别和基因分型 SV 一直具有挑战性。长读测序技术的价格变得具有竞争力,并且可以解决短读测序在 SV 的发现和基因分型方面的一些缺点。在畜牧物种中,由于资源匮乏、成本高、技术障碍和计算限制,在群体水平上分析 SV 仍然面临挑战。在这篇综述中,我们总结了主要畜牧物种中 SV 特征描述的最新进展、仍需要克服的障碍,以及这个快速发展领域的未来方向。现在看来,研究界应该汇集资源,为主要畜牧物种建立全球性的群体规模长读测序联盟,因为基因组工具的应用已经变得具有成本效益。