Casamassimi Amelia, Federico Antonio, Rienzo Monica, Esposito Sabrina, Ciccodicola Alfredo
Department of Biochemistry, Biophysics and General Pathology, University of Campania "Luigi Vanvitelli", Via L. De Crecchio, 80138 Naples, Italy.
Institute of Genetics and Biophysics "Adriano Buzzati Traverso", CNR, 80131 Naples, Italy.
Int J Mol Sci. 2017 Jul 29;18(8):1652. doi: 10.3390/ijms18081652.
In the last decades, transcriptome profiling has been one of the most utilized approaches to investigate human diseases at the molecular level. Through expression studies, many molecular biomarkers and therapeutic targets have been found for several human pathologies. This number is continuously increasing thanks to total RNA sequencing. Indeed, this new technology has completely revolutionized transcriptome analysis allowing the quantification of gene expression levels and allele-specific expression in a single experiment, as well as to identify novel genes, splice isoforms, fusion transcripts, and to investigate the world of non-coding RNA at an unprecedented level. RNA sequencing has also been employed in important projects, like ENCODE (Encyclopedia of the regulatory elements) and TCGA (The Cancer Genome Atlas), to provide a snapshot of the transcriptome of dozens of cell lines and thousands of primary tumor specimens. Moreover, these studies have also paved the way to the development of data integration approaches in order to facilitate management and analysis of data and to identify novel disease markers and molecular targets to use in the clinics. In this scenario, several ongoing clinical trials utilize transcriptome profiling through RNA sequencing strategies as an important instrument in the diagnosis of numerous human pathologies.
在过去几十年中，转录组分析一直是在分子水平研究人类疾病最常用的方法之一。通过表达研究，已经为多种人类疾病发现了许多分子生物标志物和治疗靶点。由于全RNA测序，这个数字在不断增加。事实上，这项新技术彻底改变了转录组分析，能够在单个实验中对基因表达水平和等位基因特异性表达进行定量，还能识别新基因、剪接异构体、融合转录本，并以前所未有的水平研究非编码RNA世界。RNA测序还被应用于重要项目，如ENCODE（调控元件百科全书）和TCGA（癌症基因组图谱），以提供数十种细胞系和数千份原发性肿瘤标本转录组的快照。此外，这些研究还为数据整合方法的发展铺平了道路，以促进数据的管理和分析，并识别新的疾病标志物和用于临床的分子靶点。在这种情况下，一些正在进行的临床试验将通过RNA测序策略进行的转录组分析作为诊断多种人类疾病的重要工具。
