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Int. J. Mol. Sci. 2017, 18(8), 1652;

Transcriptome Profiling in Human Diseases: New Advances and Perspectives

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
Department of Science and Technology, University of Naples “Parthenope”, 80143 Naples, Italy
Department of Environmental, Biological, and Pharmaceutical Sciences and Technologies, University of Campania “Luigi Vanvitelli”, 81100 Caserta, Italy
Author to whom correspondence should be addressed.
Received: 30 June 2017 / Revised: 21 July 2017 / Accepted: 27 July 2017 / Published: 29 July 2017
(This article belongs to the Special Issue Transcriptome Profiling in Human Diseases)
PDF [659 KB, uploaded 29 July 2017]


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. View Full-Text
Keywords: transcriptome profiling; RNA sequencing; alternative transcripts; noncoding RNA; multi-omics; human diseases; biomarkers; therapeutic targets transcriptome profiling; RNA sequencing; alternative transcripts; noncoding RNA; multi-omics; human diseases; biomarkers; therapeutic targets

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Casamassimi, A.; Federico, A.; Rienzo, M.; Esposito, S.; Ciccodicola, A. Transcriptome Profiling in Human Diseases: New Advances and Perspectives. Int. J. Mol. Sci. 2017, 18, 1652.

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