Long-Read Sequencing, Complex Diseases, and Epigenetics

Long-read sequencing technology, which is primarily attributed to platforms like Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT), has had a profound impact on the study of complex diseases, particularly in the realm of epigenetics. Epigenetics refers to changes in gene expression or cellular phenotype that do not involve alterations in the DNA sequence itself. Instead, it involves modifications to DNA or associated proteins that can be heritable and play a critical role in complex disease development and progression. This special issue aims to highlight the latest advances and breakthroughs in the application of long-read sequencing technology to the study of complex diseases with a particular focus on the role of epigenetics. It seeks to foster collaboration among researchers from diverse backgrounds, including genomics, epigenomics, bioinformatics, and clinical medicine, to advance our understanding of the molecular mechanisms underlying complex diseases.

08/03/2025