TY - JOUR A1 - Montano, Carolina A1 - Timp, Winston T1 - Evolution of genome-wide methylation profiling technologies Y1 - 2025/04/01 JF - Genome Research JO - Genome Research SP - 572 EP - 582 DO - 10.1101/gr.278407.123 VL - 35 IS - 4 UR - http://genome.cshlp.org/content/35/4/572.abstract N2 - 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. ER -