Application of High-Throughput Sequencing in Human Disease Discoveries and More
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Bioinformatics".
Deadline for manuscript submissions: 25 January 2025 | Viewed by 119
Special Issue Editors
Interests: nanopore sequencing; tandem repeat expansion; DNA methylation; single molecule, real-time (SMRT) sequencing
Special Issue Information
Dear Colleagues,
This Special Issue of the journal Genes is dedicated to the transformative role of next-generation technologies in medical genetics and genomics. This Special Issue explores the applications of high-throughput sequencing technologies, which have revolutionized our understanding of human health and disease. These technologies, including sequencing by synthesis DNA sequencing, single-molecule real-time sequencing, nanopore sequencing, methylation sequencing, RNA-seq and CHIP-seq, have enabled us to delve deeper into the genetic blueprint of life, uncovering the intricate complexities of monogenetic disorders and, to some extent, complex common disorders, and paving the way for personalized medicine and improving the care of patients with rare monogenic disorders. From diagnosing rare genetic disorders to understanding the genetic basis of common diseases, next-generation technologies are at the forefront of medical genetics and genomics. This Special Issue features a collection of research articles, reviews and commentaries from leading scientists in the field, providing insights into the latest advancements and future directions. We hope that this Special Issue will serve as a valuable resource for researchers, clinicians and anyone interested in the exciting field of medical genetics and genomics.
Dr. Mari Mori
Dr. Marco L. Leung
Guest Editors
Manuscript Submission Information
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Keywords
- single-molecule real-time sequencing technology
- nanopore sequencing technology
- DNA methylation
- RNA sequencing technology
- tandem repeat expansion
- epigenomics
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