Cancer Genetics and Epigenetics 2024, Vol.12, No.1, 47-54 http://www.medscipublisher.com/index.php/cge 47 Review and Progress Open Access High-Throughput Sequencing Technology: A New Chapter in Epigenetics and Disease Research JimMason The HITAR Institute Canada, Vancouver, BC, Canada Abstract This article outlines the applications of High-Throughput Sequencing (HTS) in identifying DNA methylation, histone modifications, non-coding RNA, and other aspects of epigenetics, as well as its role in understanding the genetic and epigenetic foundations of various diseases, especially cancer and hereditary diseases. It discusses in depth the significant role of HTS in disease diagnosis, treatment selection, and personalized medicine. Particularly in cancer treatment, HTS helps achieve more precise therapies by analyzing the genetic and epigenetic information of tumors. Despite challenges in data processing and analysis, advancements in technology and the development of new algorithms are continuously expanding its application scope. In summary, high-throughput sequencing technology is opening a new chapter in epigenetics and disease research, playing a key role in advancing our understanding of life sciences and driving medical innovation. Keywords High-throughput sequencing; Epigenetics; Disease research; DNA methylation; Personalized medicin Corresponding author email: Jim.mason@hitar.org Cancer Genetics and Epigenetics, 2024, Vol.12, No.2 doi: 10.5376/cge.2024.12.0006 Received: 19 Dec, 2023 Accepted: 27 Jan., 2024 Published: 08 Feb., 2024 Copyright © 2024 Mason, This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Mason J., 2024, High-throughput sequencing technology: a new chapter in epigenetics and disease research, Cancer Genetics and Epigenetics, 12(1): 47-54 (doi: 10.5376/cge.2024.12.0006) e Over the past few decades, High-Throughput Sequencing technology (HTS) has transformed from a basic research tool to a key driver of advances in modern biology and medicine. The origins of HTS technology can be traced back to 1977, when Sanger and Coulson first introduced the DNA sequencing method, which quickly became the cornerstone of genomics research due to its high efficiency and relatively low cost (Sanger et al., 1977). Subsequently, with the increase in computing power and continuous innovation in sequencing technology, the emergence of HTS technology marked the beginning of a new era, which was able to generate vast amounts of genetic information at unprecedented speed and scale in a very short period of time. The core advantage of HTS technology is its ability to process thousands of DNA or RNA sequences in parallel, enabling rapid and cost-effective sequencing of entire genomes. This technology not only greatly accelerated the completion of Genome projects such as the Human Genome Project (International Human Genome Sequencing Consortium, 2001), It also opens up the possibility of large-scale analysis of individual genetic variation, thus deepening our understanding of genetics (Gibbs, 2020). Epigenetics is the study of genetic phenotypic changes that do not involve DNA sequence variation, but regulate gene expression through mechanisms such as DNA methylation and histone modification. Epigenetics plays a crucial role in modern biology as it forms the bridge between the interaction of genetic information and environmental factors, affecting all levels from gene expression to cell function (Deichmann, 2016). With the application of HTS technology, researchers can now study epigenetic phenomena at the genome-wide level, revealing the complex role of epigenetics in development, cell differentiation, and disease occurrence. The contribution of HTS technology to disease research is particularly significant. Through high-throughput analysis of genetic and epigenetic variations, scientists have identified multiple disease-related biomarkers, which are critical for early diagnosis and prognostic assessment of diseases (Orlov et al., 2022). Especially in the field of cancer research, HTS technology has revealed not only the genetic heterogeneity of cancer, but also the close link between tumor growth and epigenetic regulation. In addition, the application of HTS technology in the study of
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