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多倍体基因组的测序和组装。

Sequencing and Assembly of Polyploid Genomes.

机构信息

Center for Genomics and Biotechnology, Fujian Provincial Key Laboratory of Haixia Applied Plant Systems Biology, Key Laboratory of Genetics, Breeding and Multiple Utilization of Crops, Ministry of Education, College of Life Sciences, Fujian Agriculture and Forestry University, Fuzhou, China.

Shenzhen Branch, Guangdong Laboratory for Lingnan Modern Agriculture, Genome Analysis Laboratory of the Ministry of Agriculture, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, Shenzhen, China.

出版信息

Methods Mol Biol. 2023;2545:429-458. doi: 10.1007/978-1-0716-2561-3_23.

Abstract

Polyploidy has been observed throughout major eukaryotic clades and has played a vital role in the evolution of angiosperms. Recent polyploidizations often result in highly complex genome structures, posing challenges to genome assembly and phasing. Recent advances in sequencing technologies and genome assembly algorithms have enabled high-quality, near-complete chromosome-level assemblies of polyploid genomes. Advances in novel sequencing technologies include highly accurate single-molecule sequencing with HiFi reads, chromosome conformation capture with Hi-C technique, and linked reads sequencing. Additionally, new computational approaches have also significantly improved the precision and reliability of polyploid genome assembly and phasing, such as HiCanu, hifiasm, ALLHiC, and PolyGembler. Herein, we review recently published polyploid genomes and compare the various sequencing, assembly, and phasing approaches that are utilized in these genome studies. Finally, we anticipate that accurate and telomere-to-telomere chromosome-level assembly of polyploid genomes could ultimately become a routine procedure in the near future.

摘要

多倍体在主要真核类群中随处可见,并在被子植物的进化中发挥了重要作用。最近的多倍化事件常常导致高度复杂的基因组结构,给基因组组装和相位划分带来了挑战。测序技术和基因组组装算法的最新进展使得高质量、近乎完整的染色体水平的多倍体基因组组装成为可能。新型测序技术的进展包括具有 HiFi 读长的超高精度单分子测序、Hi-C 技术的染色体构象捕获和链接读取测序。此外,新的计算方法也极大地提高了多倍体基因组组装和相位划分的精度和可靠性,如 HiCanu、hifiasm、ALLHiC 和 PolyGembler。本文综述了最近发表的多倍体基因组,并比较了这些基因组研究中使用的各种测序、组装和相位划分方法。最后,我们预计在不久的将来,准确的端粒到端粒染色体水平的多倍体基因组组装最终将成为常规程序。

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