基因组组装技术及其在畜禽遗传变异中的研究进展

doi:10.16431/j.cnki.1671-7236.2023.10.022

摘要/Abstract

摘要： 第一、二代测序技术曾广泛应用于物种基因组组装,但随着基因组学研究的不断深入,其已无法满足全面检测基因组变异和完整解析基因组未知区域的需求。第三代测序技术使基因组测序迈入了长读长时代,基于三代测序数据的基因组组装已经成为各物种基因组学研究的主流选择。高质量的基因组组装在动植物遗传学和基因组学研究中发挥着重要作用,为深入了解基因组的结构、功能和进化提供了重要支持。作者综述了第一、二、三代测序技术和辅助组装技术的发展与应用,介绍了基因组组装算法的拼接原理、适用范围和相应的生物信息学工具,并结合目前已发表的畜禽基因组学研究,阐述了高质量参考基因组在畜禽遗传变异检测和功能基因挖掘中的应用,以期为未来畜禽种质资源保护和分子育种实践提供参考。

关键词: 基因组测序技术; 辅助组装; 组装算法; 畜禽基因组; 遗传变异

Abstract: The first and second generation sequencing technology has been widely used in species genome assembly,but with the deepening of genomics research,which has been unable to meet the needs of comprehensive detection of genome variation and complete analysis of unknown regions of the genome.The third generation sequencing technology has brought genome sequencing into the era of long reading, and genome assembly based on the third generation sequencing data has become the mainstream choice for genome research of various species.High-quality genome assembly plays a crucial role in animal and plant genetics and genomics research,providing essential support for comprehensive understanding of genome structure,function,and evolution.The author reviewed the development and application of the first,second and third generation sequencing technology and auxiliary assembly technology,introduced the splicing principle,application scope and corresponding bioinformatics tools of genome assembly algorithm,and elaborated the application of high-quality reference genome in the detection of genetic variation and functional gene mining of livestock and poultry combined with the published research.In order to provide reference for the protection of animal germplasm resources and molecular breeding practice in the future.

Key words: genome sequencing technology; assisted assembly; assembly algorithm; livestock genome; genetic variation

中图分类号:

S813

王宇龙, 李珂, 李栋, 史新娥, 杨公社, 于太永. 基因组组装技术及其在畜禽遗传变异中的研究进展[J]. 中国畜牧兽医, 2023, 50(10): 4085-4095.

WANG Yulong, LI Ke, LI Dong, SHI Xin'e, YANG Gongshe, YU Taiyong. Genome Assembly Technology and Its Research Progress on Genetic Variation of Livestock and Poultry[J]. China Animal Husbandry and Veterinary Medicine, 2023, 50(10): 4085-4095.

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