复杂基因组测序技术研究进展

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。

Advances of sequencing and assembling technologies for complex genomes

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.