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[基于新一代高通量技术的人类疾病“组学”研究策略]

[New-generation high-throughput technologies based 'omics' research strategy in human disease].

作者信息

Yang Xu, Jiao Rui, Yang Lin, Wu Li-Ping, Li Ying-Rui, Wang Jun

机构信息

BGI-Shenzhen, Shenzhen 518083, China.

出版信息

Yi Chuan. 2011 Aug;33(8):829-46.

Abstract

In recent years, new-generation high-throughput technologies, including next-generation sequencing technology and mass spectrometry method, have been widely applied in solving biological problems, especially in human diseases field. This data driven, large-scale and industrialized research model enables the omnidirectional and multi-level study of human diseases from the perspectives of genomics, transcriptomics and proteomics levels, etc. In this paper, the latest development of the high-throughput technologies that applied in DNA, RNA, epigenomics, metagenomics including proteomics and some applications in translational medicine are reviewed. At genomics level, exome sequencing has been the hot spot of the recent research. However, the predominance of whole genome resequencing in detecting large structural variants within the whole genome level is coming to stand out as the drop of sequencing cost, which also makes it possible for personalized genome based medicine application. At trancriptomics level, e.g., small RNA sequencing can be used to detect known and predict unknown miRNA. Those small RNA could not only be the biomarkers for disease diagnosis and prognosis, but also show the potential of disease treatment. At proteomics level, e.g., target proteomics can be used to detect the possible disease-related protein or peptides, which can be useful index for clinical staging and typing. Furthermore, the application and development of trans-omics study in disease research are briefly introduced. By applying bioinformatics technologies for integrating multi-omics data, the mechanism, diagnosis and therapy of the disease are likely to be systemically explained and realized, so as to provide powerful tools for disease diagnosis and therapies.

摘要

近年来,包括新一代测序技术和质谱方法在内的新一代高通量技术已广泛应用于解决生物学问题,尤其是在人类疾病领域。这种数据驱动、大规模且工业化的研究模式能够从基因组学、转录组学和蛋白质组学等层面全方位、多层次地研究人类疾病。本文综述了应用于DNA、RNA、表观基因组学、宏基因组学(包括蛋白质组学)的高通量技术的最新进展以及在转化医学中的一些应用。在基因组学层面,外显子组测序一直是近期研究的热点。然而,随着测序成本的下降,全基因组重测序在检测全基因组水平上的大结构变异方面的优势日益凸显,这也使得基于个性化基因组的医学应用成为可能。在转录组学层面,例如,小RNA测序可用于检测已知的和预测未知的微小RNA。这些小RNA不仅可以作为疾病诊断和预后的生物标志物,还显示出疾病治疗的潜力。在蛋白质组学层面,例如,靶向蛋白质组学可用于检测可能与疾病相关的蛋白质或肽段,这对于临床分期和分型可能是有用的指标。此外,还简要介绍了跨组学研究在疾病研究中的应用和发展。通过应用生物信息学技术整合多组学数据,有望系统地解释和实现疾病的机制、诊断和治疗,从而为疾病诊断和治疗提供有力工具。

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