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Special Issue "Linking Genomic Changes with Cancer in the NGS Era"
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (31 March 2023) | Viewed by 18238
Special Issue Editor
Interests: prostate cancer; inherited cancer predisposition; DNA-repair; molecular tumor subtypes; targeted cancer therapeutics; CRISPR/Cas9 gene editing; functional assays
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
The arrival and subsequent evolution of the next-generation sequencing (NGS) technology has enlarged our capacity to read in deep the genetic code, opening a new era in the identification of disease-causing genetic changes. While our ability to “read” individual genetic changes dramatically increased, the “translationability” of the identified changes is complex, and the establishment of a new driver gene/variant constitutes the NGS-based genetic screening bottleneck. This is particularly true in cancer, where only a very small fraction of the 10-20% of the cancers associated with familial aggregation have a known underlying genetic cause. Moreover, the profile of genomic changes of the 80-90% of the cancers arising sporadically is highly heterogeneous, making difficult to distinguish driving, secondary and progression-associated genomic variation.
In this Special Issue, we invite researchers to submit their work highlighting or discarding the identification of new genes/variants as a cause of cancer development or progression. Evidences may include case-control studies, segregation analysis, gene/variant specific gene editing (CRISPR/Cas9 or other), protein structure analysis, functional studies, or other approaches considered relevant for validation of a gene-disease association.
You may choose our Joint Special Issue in CIMB.
Dr. Paula Paulo
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 submissions that pass pre-check are 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.
- next-generation sequencing (NGS)
- genetic variation
- driver gene
- functional validation
- gene editing