Long Read Sequencing: The Long and Short of It.

Long-read sequencing offers significant advantages in accurately resolving complex genomic regions, detecting structural variants, assessing epigenetic modifications and phasing haplotypes, which are crucial for clinical diagnostics. Its ability to sequence long stretches of DNA without fragmentation provides a more comprehensive view of the genome, enabling the identification of previously undetectable variants and assessment of complex medically important genes. As technology continues to advance, long-read sequencing is poised to play a pivotal role in personalized medicine, rare disease diagnostics, and the development of targeted therapies.

Learning Objectives:
1. Understand the key advantages of long-read sequencing over short-read technologies in clinical diagnostics, particularly in resolving complex genomic regions.
2. Explore the potential applications of long-read sequencing in personalized medicine, rare disease diagnostics, and targeted therapy development.
3. Discuss the future trends and challenges in integrating long-read sequencing into routine clinical practice.