Montano Carolina, Timp Winston
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland 21218, USA.
Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
Genome Res. 2025 Apr 14;35(4):572-582. doi: 10.1101/gr.278407.123.
In this mini-review, we explore the advancements in genome-wide DNA methylation profiling, tracing the evolution from traditional methods such as methylation arrays and whole-genome bisulfite sequencing to the cutting-edge single-molecule profiling enabled by long-read sequencing (LRS) technologies. We highlight how LRS is transforming clinical and translational research, particularly by its ability to simultaneously measure genetic and epigenetic information, providing a more comprehensive understanding of complex disease mechanisms. We discuss current challenges and future directions in the field, emphasizing the need for innovative computational tools and robust, reproducible approaches to fully harness the capabilities of LRS in molecular diagnostics.
在本综述中，我们探讨了全基因组DNA甲基化分析的进展，追溯了从传统方法（如甲基化芯片和全基因组亚硫酸氢盐测序）到长读长测序（LRS）技术实现的前沿单分子分析的演变。我们强调了LRS如何正在改变临床和转化研究，特别是其能够同时测量遗传和表观遗传信息，从而更全面地理解复杂疾病机制。我们讨论了该领域当前的挑战和未来方向，强调需要创新的计算工具以及稳健、可重复的方法，以充分利用LRS在分子诊断中的能力。
