The New Developments in Third-Generation Sequencing Methods in Human Rare Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 30 September 2025 | Viewed by 42
Special Issue Editor
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,
This Special Issue is a continuation of our previous Special Issue on “Recent Advances on Mitochondrial Diseases”.
Rare Diseases (RD) form a clinically and genetically heterogeneous group of disorders, which generally manifest in tissues or organs with a high energy requirement during human life. The same applies to other oncogenic diseases, as in tumors which consist of cells with different genetic abnormalities, a different transcriptome and epigenome, and therefore a different malignancy. In the current standard bulk analyses on DNA genomics or RNA whole transcriptomics technologies, these biological relevant pathophysiology differences are not always picked up. In general, these new technologies are necessary in understanding the pathophysiology in RD within the current translational science. Since RD can display multiple symptoms, at any age and any time. Finally, the course of RD can be progressive, causing substantial morbidity and mortality. Today, too many RD are still undiagnosed, and for many no effective treatment exists for the vast majority of RD, but first this should change into a solid diagnosis in future.
Therefore, this Special Issue aims to provide a current overview of “The New Developments in Third-Generation Sequencing Methods in Human Rare Diseases” in our understanding of genomics, diagnosis, biological mechanisms, and improvements in treatment of Rare Diseases.
Dr. Rick Kamps
Guest Editor
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Keywords
- short-read sequencing
- long-read sequencing
- single-cell rna sequencing
- spatial-transcriptomic sequencing
- single-nucleotide sequencing
- structural-variant sequencing
- protein-omics sequencing
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