Department of Biomolecular Engineering, University of California, Santa Cruz, California 95064, USA; email:
Dovetail Genomics, LLC, Santa Cruz, California 95060, USA.
Annu Rev Anim Biosci. 2019 Feb 15;7:17-40. doi: 10.1146/annurev-animal-020518-115344. Epub 2018 Nov 28.
Affordable, high-throughput DNA sequencing has accelerated the pace of genome assembly over the past decade. Genome assemblies from high-throughput, short-read sequencing, however, are often not as contiguous as the first generation of genome assemblies. Whereas early genome assembly projects were often aided by clone maps or other mapping data, many current assembly projects forego these scaffolding data and only assemble genomes into smaller segments. Recently, new technologies have been invented that allow chromosome-scale assembly at a lower cost and faster speed than traditional methods. Here, we give an overview of the problem of chromosome-scale assembly and traditional methods for tackling this problem. We then review new technologies for chromosome-scale assembly and recent genome projects that used these technologies to create highly contiguous genome assemblies at low cost.
在过去的十年中，经济实惠、高通量的 DNA 测序技术加速了基因组组装的步伐。然而，来自高通量、短读测序的基因组组装通常不如第一代基因组组装那样连续。虽然早期的基因组组装项目通常得益于克隆图谱或其他图谱数据，但许多当前的组装项目放弃了这些支架数据，而只将基因组组装成较小的片段。最近，发明了新的技术，这些技术可以以比传统方法更低的成本和更快的速度进行染色体级别的组装。在这里，我们概述了染色体级别的组装问题以及解决此问题的传统方法。然后，我们回顾了用于染色体级别的组装的新技术以及最近使用这些技术以低成本创建高度连续基因组组装的基因组项目。
