High-throughput sequencing: a breakthrough in molecular diagnosis for precision medicine

IF 3.9 4区 生物学 Q1 GENETICS & HEREDITY
Dipali Barku Dongare, Shaik Shireen Nishad, Sakshi Y. Mastoli, Shubhini A. Saraf, Nidhi Srivastava, Abhishek Dey
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引用次数: 0

Abstract

High-resolution insights into the nucleotide arrangement within an organism’s genome are pivotal for deciphering its genetic composition, function, and evolutionary trajectory. Over the years, nucleic acid sequencing has been instrumental in driving significant advancements in genomics and molecular biology. The advent of high-throughput or next-generation sequencing (NGS) technologies has revolutionized whole genome sequencing, revealing novel and intriguing features of genomes, such as single nucleotide polymorphisms and lethal mutations in both coding and non-coding regions. These platforms provide a practical approach to comprehensively identifying and analyzing whole genomes with remarkable throughput, accuracy, and scalability within a short time frame. The resulting data holds immense potential for enhancing healthcare systems, developing novel and personalized therapies, and preparing for future pandemics and outbreaks. Given the wide array of available high-throughput sequencing platforms, selecting the appropriate technology based on specific needs is crucial. However, there is limited information regarding sample preparation, sequencing principles, and output data to facilitate a comparative evaluation of these platforms. This review details various NGS technologies and approaches, examining their advantages, limitations, and future potential. Despite being in their early stages and facing challenges, ongoing advancements in NGS are expected to yield significant future benefits. 

高通量测序:精准医学分子诊断的突破
对生物体基因组内核苷酸排列的高分辨率洞察对于破译其遗传组成、功能和进化轨迹至关重要。多年来,核酸测序在推动基因组学和分子生物学的重大进步方面发挥了重要作用。高通量或下一代测序(NGS)技术的出现彻底改变了全基因组测序,揭示了基因组的新颖和有趣的特征,如编码区和非编码区的单核苷酸多态性和致命突变。这些平台提供了一种实用的方法来全面识别和分析全基因组,在短时间内具有显著的吞吐量,准确性和可扩展性。由此产生的数据在加强卫生保健系统、开发新型和个性化疗法以及为未来的大流行和疫情做好准备方面具有巨大潜力。鉴于现有的高通量测序平台种类繁多,根据具体需求选择合适的技术至关重要。然而,关于样品制备、测序原理和输出数据的信息有限,无法对这些平台进行比较评估。本文详细介绍了各种NGS技术和方法,分析了它们的优点、局限性和未来潜力。尽管处于早期阶段并面临挑战,但天然气天然气系统的持续进步有望在未来产生重大效益。
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来源期刊
CiteScore
3.50
自引率
3.40%
发文量
92
审稿时长
2 months
期刊介绍: Functional & Integrative Genomics is devoted to large-scale studies of genomes and their functions, including systems analyses of biological processes. The journal will provide the research community an integrated platform where researchers can share, review and discuss their findings on important biological questions that will ultimately enable us to answer the fundamental question: How do genomes work?
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