遗传 ›› 2018, Vol. 40 ›› Issue (11): 944-963.doi: 10.16288/j.yczz.18-255

• 综述 • 上一篇    下一篇

复杂基因组测序技术研究进展

高胜寒,禹海英,吴双阳,王森,耿佳宁,骆迎峰,胡松年()   

  1. 中国科学院北京基因组研究所,中国科学院基因组科学与信息重点实验室,北京 100101
  • 收稿日期:2018-09-10 修回日期:2018-10-29 出版日期:2018-11-20 发布日期:2018-11-07
  • 通讯作者: 胡松年 E-mail:husn@big.ac.cn
  • 作者简介:高胜寒,博士,助理研究员,研究方向:基因组结构与稳定性。E-mail: gaoshh@big.ac.cn

Advances of sequencing and assembling technologies for complex genomes

Gao Shenghan,Yu Haiying,Wu Shuangyang,Wang Sen,Geng Jianing,Luo Yingfeng,Hu Songnian()   

  1. CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China
  • Received:2018-09-10 Revised:2018-10-29 Online:2018-11-20 Published:2018-11-07
  • Contact: Hu Songnian E-mail:husn@big.ac.cn

摘要:

复杂基因组指的是无法使用常规测序和组装手段直接解析的一类基因组,通常指包含高比例重复序列、高杂合度、极端GC含量、存在难消除异源DNA污染的基因组。为了解决复杂基因组的测序和组装问题,需要分别从基因组测序实验方法、测序技术平台、组装算法与策略3个方面进行深入研究。本文详细介绍了复杂基因组测序组装相关的现有技术与方法,并结合复杂基因组经典实例介绍了复杂基因组测序的技术解决途径和发展历程,可为制订合适的复杂基因组测序策略提供参考。

关键词: 复杂基因组, 基因组组装, 基因组测序技术

Abstract:

Complex genomes are noted to be extremely difficult to sequence or assemble by using ordinary methods. Complex genomes are typically characterized as being highly repetitive, highly heterozygous, extremely GC biased, or naturally contaminated, i.e., contaminations which cannot be removed before sequencing. To solve these problems with sequencing and assembling complex genomes, three major techniques include: (1) DNA extraction experiments, (2) Sequencing technologies and platforms, and (3) Algorithms and strategies for assembling. In this review, we summarize these state-of-the-art technologies and strategies used in these directions. We also review the representative projects of complex genome sequencing and address the development of these technologies and strategies for solving the challenges when sequencing or assembling complex genomes.

Key words: complex genome, genome assembly, genome sequencing technologies