Genomic Insights: Exploring the Applications of Sequencing Technologies in Genetics
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 (20 February 2024) | Viewed by 2086
Special Issue Editor
Special Issue Information
Dear Colleagues,
Next-Generation Sequencing technologies can improve our knowledge of the molecular genetics of human diseases, but may also lead to uncertainty during the interpretation of the results. Providing a definitive genetic diagnosis is critical in prenatal testing or management of severely affected paediatric patients and can be especially challenging in affected individuals in whom a broad unbiased sequencing approach such as whole-exome sequencing or whole-genome sequencing is potentially detrimental. Molecular studies are warranted to clarify the genetic basis of human diseases and emphasize the importance of functional studies in the diagnostic variant reclassification process.
Dr. Elena Bonora
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. 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.
Keywords
- next-generation sequencing
- whole-exome sequencing
- whole-genome sequencing
- functional studies
