Application of Next-Generation Sequencing in Genetic Diseases Diagnosis
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 25 September 2024 | Viewed by 56
Special Issue Editor
Special Issue Information
Dear Colleagues,
High-throughput sequencing has represented a significant revolution in the field of genetic medicine and the diagnosis of inherited diseases. Currently, we can find highly efficient technical solutions but with great challenges in the clinical interpretation of genetic results, especially since the implementation of whole exome and genome sequencing into routine clinical practice. This great challenge is accompanied by the difficulty of incidental findings interpretation and counseling and also the use of complex samples such as circulating tumor DNA, maternal plasma, and cell-free DNA fetal samples.
This Special Issue on Application of Next-Generation Sequencing in Genetic Diseases Diagnosis will provide novel insights and an updated overview of these technology applications and how they can interfere in the pathophysiology, diagnosis, and treatment of inherited disorders. Given the complexity and broadness of these topics, contributions from experts in the field through research papers and reviews are welcome.
Dr. Laia Pedrola
Guest Editor
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. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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.
Keywords
- genomics
- next-generation sequencing
- genetic diagnosis
- inherited diseases
- diagnosis
