Transcriptome Profiling in Human Diseases: New Advances and Perspectives

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 inc...

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Bibliographic Details
Published in:International journal of molecular sciences 2017-07, Vol.18 (8), p.1652
Main Authors: Casamassimi, Amelia, Federico, Antonio, Rienzo, Monica, Esposito, Sabrina, Ciccodicola, Alfredo
Format: Article
Language:English
Subjects:
Biomarkers
Biomarkers, Tumor - genetics
Biomarkers, Tumor - metabolism
Cancer
Clinical trials
Data integration
Data processing
Databases, Genetic
Disease control
Encyclopedias
Gene expression
Gene Expression Profiling - methods
Genomes
Humans
Isoforms
Medical research
Molecular biology
Neoplasms - genetics
Neoplasms - metabolism
New technology
Non-coding RNA
Pathology
Regulatory sequences
Review
Ribonucleic acid
RNA
Transcriptome
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Summary: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.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms18081652