Modern Bioinformatics Solutions Used for Genetic Data Analysis

Ya. A. Kibirev, A. V. Kuznetsovskiy, S. G. Isupov, I. V. Darmov
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Abstract

Effective counteraction to biological threats, both natural and man-made, requires the availability of means and methods  for rapid and reliable microorganism identification and a comprehensive study of their basic biological properties.  Over the past decade, the arsenal of domestic microbiologists has been supplemented by numerous methods for  analyzing the genomes of pathogens, primarily based on nucleic acid sequencing. The purpose of this work is to provide  the reader with information about capabilities of modern technical and methodological arsenal used for in-depth  molecular genetic study of microorganisms, including bioinformatics solutions used for the genetic data analysis. The  source base for this research is English-language scientific literature available via the Internet, bioinformation software  documentation. The research method is an analysis of scientific sources from the general to the specific. We considered  the features of sequencing platforms, the main stages of genetic information analysis, current bioinformation utilities,  their interaction and organization into a single workflow. Results and discussion. The performance of modern genetic  analyzers allows for complete decoding of the bacterial genome within one day, including the time required to prepare  the sample for research. The key factor that largely determines the effectiveness of the genetic analysis methods used is  the competent use of the necessary bioinformatics software utilities. Standard stages of primary genetic data analysis  are assessment of the quality control, data preprocessing, mapping to a reference genome or de novo genome assembly,  genome annotation, typing and identification of significant genetic determinants (resistance to antibacterial drugs,  pathogenicity factors, etc.), phylogenetic analysis. For each stage bioinformation utilities have been developed, differing  in implemented analysis algorithms. Conclusion. Open source utilities that do not require access to remote resources  for their operation are of greatest interest due to activities specifics of NBC protection corps units.
用于遗传数据分析的现代生物信息学解决方案
要有效应对自然和人为的生物威胁,就必须有快速可靠地识别微生物和全面研究其基本生物特性的手段和方法。 在过去十年中,国内微生物学家的武器库得到了补充,出现了许多主要基于核酸测序的病原体基因组分析方法。本文旨在向读者介绍用于微生物分子遗传学深入研究的现代技术和方法库的能力,包括用于遗传数据分析的生物信息学解决方案。本研究的资料来源是互联网上的英文科学文献、生物信息软件文档。研究方法是对科学资料进行从一般到特殊的分析。我们考虑了测序平台的特点、遗传信息分析的主要阶段、当前的生物信息实用程序、它们之间的相互作用以及如何组织成一个工作流程。结果与讨论现代基因分析仪的性能可在一天内完成细菌基因组的解码,包括准备研究样本所需的时间。在很大程度上决定基因分析方法有效性的关键因素是能否熟练使用必要的生物信息学软件工具。初级基因数据分析的标准阶段包括质量控制评估、数据预处理、与参考基因组或新基因组组装的映射、基因组注释、重要基因决定因素(抗菌药物耐药性、致病因素等)的分型和鉴定、系统发育分析。每个阶段都开发了生物信息实用程序,其分析算法各不相同。结论由于核生化武器保护部队活动的特殊性,无需访问远程资源即可运行的开放源码实用程序最令人感兴趣。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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