Aoyagi Blue Yuta, Iimura Hideaki, Sato Mitsuhiko P, Shirasawa Kenta
Department of Frontier Research and Development, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan.
Breed Sci. 2025 Mar;75(1):3-12. doi: 10.1270/jsbbs.24065. Epub 2025 Feb 21.
Advances in sequencing technologies have enabled the determination of genome sequences of multiple lines within a single species. Comparative analysis of multiple genome sequences reveals all genes present within a species, providing insight into the genetic mechanisms that lead to the establishment of species. Highly accurate pan-genome analysis requires telomere-to-telomere gapless genome assembly, providing an ultimate genome sequence that covers all chromosomal regions without any undetermined nucleotide sequences. This review describes the genome sequencing technologies and sophisticated bioinformatics required for telomere-to-telomere gapless genome assembly, as well as a genetic mapping that can evaluate the accuracy of telomere-to-telomere genome assembly. Pan-genome analyses may contribute to the understanding of genetic mechanisms not only within a single species but also across species.
测序技术的进步使得在单个物种内测定多个品系的基因组序列成为可能。对多个基因组序列进行比较分析，可揭示一个物种中存在的所有基因，有助于深入了解导致物种形成的遗传机制。高度准确的泛基因组分析需要端粒到端粒的无间隙基因组组装，从而提供一个覆盖所有染色体区域且无任何未确定核苷酸序列的终极基因组序列。本文综述了端粒到端粒无间隙基因组组装所需的基因组测序技术和先进的生物信息学方法，以及一种能够评估端粒到端粒基因组组装准确性的遗传图谱构建方法。泛基因组分析不仅有助于理解单个物种内的遗传机制，也有助于理解跨物种的遗传机制。
