Giani Alice Maria, Gallo Guido Roberto, Gianfranceschi Luca, Formenti Giulio
Department of Surgery, Weill Cornell Medical College, New York, NY, USA.
Department of Biosciences, University of Milan, Milan, Italy.
Comput Struct Biotechnol J. 2019 Nov 17;18:9-19. doi: 10.1016/j.csbj.2019.11.002. eCollection 2020.
Genomes represent the starting point of genetic studies. Since the discovery of DNA structure, scientists have devoted great efforts to determine their sequence in an exact way. In this review we provide a comprehensive historical background of the improvements in DNA sequencing technologies that have accompanied the major milestones in genome sequencing and assembly, ranging from early sequencing methods to Next-Generation Sequencing platforms. We then focus on the advantages and challenges of the current technologies and approaches, collectively known as Third Generation Sequencing. As these technical advancements have been accompanied by progress in analytical methods, we also review the bioinformatic tools currently employed in genome assembly, as well as some applications of Third Generation Sequencing technologies and high-quality reference genomes.
基因组是遗传学研究的起点。自DNA结构被发现以来,科学家们一直致力于精确确定其序列。在这篇综述中,我们提供了DNA测序技术改进的全面历史背景,这些改进伴随着基因组测序和组装的主要里程碑,从早期测序方法到新一代测序平台。然后,我们重点关注当前技术和方法(统称为第三代测序)的优势和挑战。由于这些技术进步伴随着分析方法的进展,我们还回顾了目前用于基因组组装的生物信息学工具,以及第三代测序技术和高质量参考基因组的一些应用。