高通量测序的进展和未来挑战

Tariq Pervaiz, A. Lotfi, M. S. Haider, Jiang HaiFang, Jinggui Fang
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引用次数: 5

摘要

高通量测序(High throughput sequencing, HTS)技术是基因组学研究中必不可少的技术,也是近年来基因组学领域的研究热点,其数据量是目前最复杂的毛细管测序仪的100倍以上。使用下一代测序技术的HTS的最新进展和发展在数字基因表达谱、表观基因组学、基因组学和转录组学的研究中变得至关重要。这些方法能够灵活地对多个DNA分子进行相应的测序;在短时间内对数以亿计的DNA分子进行测序。虽然,费用和时间已经大大减少;新政策的不准确概况和界限与先前报道的测序技术有很大不同。随着下一代测序技术(NGS)技术的发展和成本的不断降低,RNA测序(RNA-seq)已成为全球范围内流行的基因表达项目技术。对于RNA测序数据的标准化,已经做了各种各样的方法,这些方法在报告中已经具体化,无论是在偏倚修正的类型上还是在统计方法上都是相互矛盾的。另一方面,随着数据的不断积累,对于要使用的适当归一化技术或所选方法对下游分析的影响没有明显的共识。在本文中,我们介绍了HT-NGS的主要特点,关键的HTS平台和不同的测序应用,伦理限制和未来展望。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
High Throughput Sequencing Advances and Future Challenges
High throughput sequencing (HTS) technologies were developed into indispensable for genomic investigation and recent hottest topic for research in the field of genomics, which can generate over 100 times more data in comparison with the most complicated capillary sequencers. Recent advances and developments in HTS using next generation sequencing techniques have become essential in the studies of digital gene expression profiling, in epigenomics, genomics, and transcriptomics. These methodologies are dexterous of sequencing multiple DNA molecules in corresponding; facilitate hundreds of millions of DNA molecules to be sequenced within a short period of time. Though, the expenses and time period have been significantly reduced; the inaccurate profiles and boundaries of the new policy differ considerably from those of earlier reported sequencing techniques. The technical developments and decreasing cost of NGS (Next Generation Sequencing) technology have made RNA sequencing (RNA-seq) as a worldwide popular technique for gene expression projects. Various approaches have been done for the standardization of RNA sequencing data, which have been materialized in the reports, contradictory, both in the type of bias modification and in the statistical approach. On the other hand, as data persistently build up, there has been no apparent consensus on the proper normalization techniques to be used or the impact of chosen methods on the downstream analysis. In the present article, we mentioned the key features of HT-NGS like, Key HTS platforms and different sequencing applications, ethical limitation and future prospective.
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