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Research Advances in Whole-Genome/Exome Sequencing (WGS/WES) and Next-Generation Sequencing

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 (30 May 2024) | Viewed by 230

Special Issue Editor

Department of Toxicogenomics (TGX), School for Mental Health and Neuroscience (MHeNs), Maastricht University, P.O. Box 616, 6200 MD Maastricht, The Netherlands
Interests: next-generation sequencing; third-generation sequencing; variant classification models; inherited disease; single-cell sequencing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Most inherited diseases form a clinically and genetically heterogeneous group of disorders, which generally manifests in many tissues or organs, causing irreversible progressing disease, e.g., cancer, systemic disease, and age-related disease. However, the use of next-generation sequencing such as whole-exome and whole-genome sequencing has improved the diagnostic yield in the search for disease-causing variants in inherited diseases. Still, many genetically inherited diseases remain little-understood, and more research needs to be carried out to unravel these pathophysiological mechanisms. In current standard bulk analyses on DNA genomics or RNA whole-transcriptomics technologies, biologically relevant pathophysiology differences are not always picked up on. However, new technologies, such as long-read sequencing, are being developed for complex bioinformatic analyses in organs, tissue, or even cells, offering the possibility of determining the whole transcriptome, or whole genome, and also the complete epigenome sequence in less than a day. This opens up a fast treatment strategy in translational science.

This Special Issue aims to provide a current overview of advanced research on whole-genome/exome sequencing (WGS/WES) and next-generation sequencing. Reviews and research papers are encouraged on relevant topics.

Dr. Rick Kamps
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.


  • short/long-read sequencing
  • whole-exome sequencing
  • whole-genome sequencing
  • bioinformatics
  • variant classification models
  • translational medicine

Published Papers

There is no accepted submissions to this special issue at this moment.
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