Kremer Frederico Schmitt, McBride Alan John Alexander, Pinto Luciano da Silva
Programa de Pós-Graduação em Biotecnologia (PPGB), Centro de Desenvolvimento Tecnológico, Universidade Federal de Pelotas, Pelotas, Brazil.
Genet Mol Biol. 2017;40(3):553-576. doi: 10.1590/1678-4685-GMB-2016-0230.
The introduction of next-generation sequencing (NGS) had a significant effect on the availability of genomic information, leading to an increase in the number of sequenced genomes from a large spectrum of organisms. Unfortunately, due to the limitations implied by the short-read sequencing platforms, most of these newly sequenced genomes remained as "drafts", incomplete representations of the whole genetic content. The previous genome sequencing studies indicated that finishing a genome sequenced by NGS, even bacteria, may require additional sequencing to fill the gaps, making the entire process very expensive. As such, several in silico approaches have been developed to optimize the genome assemblies and facilitate the finishing process. The present review aims to explore some free (open source, in many cases) tools that are available to facilitate genome finishing.
下一代测序(NGS)技术的引入对基因组信息的可获取性产生了重大影响,使得来自众多生物的测序基因组数量有所增加。不幸的是,由于短读长测序平台存在的局限性,这些新测序的基因组大多仍处于“草图”阶段,是整个遗传内容的不完整呈现。先前的基因组测序研究表明,即使是细菌基因组,要完成通过NGS测序的基因组,可能还需要额外测序来填补缺口,这使得整个过程成本非常高昂。因此,已经开发了几种计算机模拟方法来优化基因组组装并促进完成过程。本综述旨在探索一些可用于促进基因组完成的免费(在许多情况下为开源)工具。