Special Issue "Transcriptome Profiling in Human Diseases"
Deadline for manuscript submissions: closed (30 June 2017).
Interests: human genetic diseases; molecular mechanism pathogenesis; whole-transcriptome analysis; non-coding RNAs
Special Issues and Collections in MDPI journals
Special Issue in International Journal of Molecular Sciences: Transcriptional Regulation: Molecules, Involved Mechanisms and Misregulation 2019
Special Issue in International Journal of Molecular Sciences: Transcriptional Regulation and Its Misregulation in Human Diseases
In recent years, whole-transcriptome analysis with total RNA sequencing (RNA-Seq) has emerged as the gold standard for quantifying gene expression levels and allele-specific expression in a single experiment, as well as to identify novel genes, splice isoforms, chimeric transcripts, and to investigate non-coding RNAs. RNA-Seq also provides an important technique, often used in studies of human disease. A great of emphasis has been given to RNA-Seq data with the ENCODE (Encyclopedia of the regulatory elements) and TCGA (The Cancer Genome Atlas) projects that deployed this direct technique to characterize dozens of cell lines and thousands of primary tumor specimens, respectively. In this scenario, RNA-Seq data provide a unique snapshot of the transcriptomic level of the human disease and show at an unbiased proportion of transcripts that allows the identification of novel transcripts, fusion transcripts, and non-coding RNAs that could be remain undetected with other different technologies.
This Special Issue, “Transcriptome Profiling in Human Diseases”, will cover a selection of recent research topics and current review articles in the field of human complex and Mendelian disorders that have been analyzed by the RNA-Seq technique. Experimental and Bioinformatics papers, up-to-date review articles, and commentaries are also welcome.
Prof. Dr. Alfredo Ciccodicola
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- whole-transcriptome analysis
- RNA sequencing
- human complex diseases
- Mendelian disorders
- allele-specific expression
- novel transcripts
- new splice isoforms
- chimeric transcripts
- non-coding RNAs