传染病中的基因组下一代测序:临床应用,转化挑战和未来方向
Ayman Elbehiry1, Adil Abalkhail1
1Department of Public Health, College of Applied Medical Sciences, Qassim University, P.O. Box 6666, Buraydah 51452, Saudi Arabia.
Diagnostics (Basel, Switzerland)
|August 28, 2025
概括
基因组下一代测序 (mNGS) 提供了广泛的病原体检测挑战性感染. 本综述详细介绍了mNGS的工作流程,挑战以及临床整合的未来方向.
科学领域:
- * 传染病诊断
- * 临床微生物学
- * 基因组学和生物信息学
背景情况:
- * 基因组下一代测序 (mNGS) 可以直接从临床样本中检测出各种病原体.
- *mNGS通过识别新型,苛刻和多微生物感染以及特征抗菌素耐药性 (AMR) 基因来补充传统方法.
- 尽管mNGS具有潜力,但由于转化和采用挑战,其在临床微生物学中仍未得到充分利用.
研究的目的:
- * 审查阻碍mNGS临床实施的转化挑战.
- 提供mNGS工作流程的全面概述,从样本处理到生物信息分析.
- * 探讨道德,经济和监管方面的障碍,并概述mNGS整合的未来方向.
主要方法:
- *对mNGS工作流程进行全面审查,包括样本处理,宿主DNA耗尽,测序和生物信息学.
- *分析诸如污染和人类DNA干扰等变异源.
- * 从临床试验 (MATESHIP,GRAIDS,DISQVER,NGS-CAP) 中获得的实际证据的检查.
主要成果:
- * 在mNGS的实施中发现了关键挑战:工作流变性,污染,宿主DNA干扰,耐药性基因注释不一致.
- * 探索了临床采用的伦理,法律,隐私,经济和监管障碍.
- * 通过大规模试验数据突出显示临床相关性.
结论:
- *mNGS有很大的潜力改变传染病诊断,特别是在重症监护和具有挑战性的病例中.
- 解决工作流程标准化,生物信息学一致性和监管障碍对于更广泛的临床采用至关重要.
- * 未来的方向包括人工智能,多组学,云分析和便携式测序,用于增强诊断和感染管理.
相关概念视频
01:29Microorganisms in Medicine and Therapeutics
312
Microorganisms play a fundamental role in vaccine development, gene therapy, and therapeutic production. Their biological properties are harnessed to advance medicine and public health. Beyond immunization, microorganisms contribute to gut health, antibiotic synthesis, and genetic disease treatment.Live Attenuated and Inactivated VaccinesLive attenuated vaccines, such as the measles, mumps, and rubella (MMR) vaccine, utilize weakened forms of pathogens to closely resemble natural infections.
312
03:00Next-generation Sequencing
92.6K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
92.6K
01:29Modern Molecular Taxonomy
136
Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
136
02:02Genomics
37.4K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
37.4K
01:20Applications of Molecular Taxonomy
98
Molecular taxonomy has revolutionized the understanding and classification of bacteria, providing precise insights into their diversity, evolutionary relationships, and ecological roles. By utilizing molecular techniques such as DNA sequencing and fingerprinting, researchers have made significant strides in various fields related to bacterial studies.Resolving Taxonomic AmbiguitiesMolecular taxonomy has been instrumental in distinguishing closely related bacterial species initially thought to...
98
03:21RNA-seq
10.4K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
10.4K