Long walk to genomics: History and current approaches to genome sequencing and assembly. Review uri icon

Overview

abstract

  • 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 de novo genome assembly, as well as some applications of Third Generation Sequencing technologies and high-quality reference genomes.

publication date

  • November 17, 2019

Identity

PubMed Central ID

  • PMC6926122

Scopus Document Identifier

  • 85076028647

Digital Object Identifier (DOI)

  • 10.1016/j.csbj.2019.11.002

PubMed ID

  • 31890139

Additional Document Info

volume

  • 18