Yuan Yuxuan, Chung Claire Yik-Lok, Chan Ting-Fung
School of Life Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.
State Key Laboratory for Agrobiotechnology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Comput Struct Biotechnol J. 2020 Aug 1;18:2051-2062. doi: 10.1016/j.csbj.2020.07.018. eCollection 2020.
Recent advances in optical mapping have allowed the construction of improved genome assemblies with greater contiguity. Optical mapping also enables genome comparison and identification of large-scale structural variations. Association of these large-scale genomic features with biological functions is an important goal in plant and animal breeding and in medical research. Optical mapping has also been used in microbiology and still plays an important role in strain typing and epidemiological studies. Here, we review the development of optical mapping in recent decades to illustrate its importance in genomic research. We detail its applications and algorithms to show its specific advantages. Finally, we discuss the challenges required to facilitate the optimization of optical mapping and improve its future development and application.
光学图谱技术的最新进展使得构建具有更高连续性的改进基因组组装成为可能。光学图谱还能够进行基因组比较并识别大规模结构变异。将这些大规模基因组特征与生物学功能联系起来是动植物育种和医学研究中的一个重要目标。光学图谱也已应用于微生物学领域,并且在菌株分型和流行病学研究中仍发挥着重要作用。在此,我们回顾近几十年来光学图谱技术的发展,以阐明其在基因组研究中的重要性。我们详细介绍其应用和算法,以展示其独特优势。最后,我们讨论为促进光学图谱技术的优化以及改进其未来发展与应用所需应对的挑战。