Genomic Diagnosis in Next-Generation Sequencing
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: closed (24 March 2023) | Viewed by 1950
Special Issue Editors
Interests: gene discovery; computational genomics; genetic epidemiology; statistical genetics; bioinformatics
Special Issue Information
Dear Colleagues,
Next generation sequencing (NGS) has provided wide range of opportunity including the genetic diagnosis of a number of diseases. Thanks to its rapid evolution and widespread use in clinical laboratories. Therefore, the need for simpler, easier to interpret clinical genomic diagnoses has never been so acute. We request manuscripts at the interface of clinical genome interpretation journey, from the evaluation of promising whole genome sequence analyses to communication and implementation of clinical outcomes. As many non-specialist clinicians are now faced with their healthy patients having access to their personal genomic information, greater consistency and clarity of standards are needed in order to translate new clinical genomic insight into preventative healthcare. We look forward to receiving rigorous research on current challenges and recommendations for interpreting patient genomes inside and outside of the traditional clinical genetics field, the specialist or non-specialist setting, and future scenarios for precision health systems with genomics at their core for the coming years.
Dr. Segun Fatumo
Dr. Manuel Corpas
Guest Editors
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. Diagnostics is an international peer-reviewed open access semimonthly 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
- gene discovery
- computational genomics
- genetic epidemiology
- statistical genetics
- bioinformatics
- bioinformatics
- genomics
- computational biology
- genetics
- next generation sequencing
- NGS data analysis
- genetic analysis
- human genetics
- transcriptomics
- sequencing
