Applications of long-read sequencing

The applications of long-read sequencing in clinical practice are limited to a few specific circumstances. However, it does offer improved detection accuracy over short-read sequencing for some types of genetic variants. 

Some of the more notable applications of long-read sequencing include: 

• Rare Disease Diagnosis: Identification of rare genetic variants responsible for inherited disorders with long-read sequencing's ability to discover novel pathogenic mutations with previously unknown underlying genetic causes
• Cancer Genomics: Multilayer analysis of the transcriptome and the epigenome enabling detection of structural variants, gene fusions, and complex genomic rearrangements crucial for understanding tumor evolution and identifying potential therapeutic targets
• Infectious Diseases and Microbiota: Characterization of microbial communities, including viruses, bacteria, and fungi, and detection of antimicrobial resistance genes, aiding in successfully performing metagenome analyses
• Transplantation: Profiling of the transplant recipient's genome and the microbiome, monitoring for signs of rejection, infection, or complications, and developing personalized treatment strategies for transplant recipients