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AAT Bioquest

What are the applications of long-read sequencings?

Posted June 4, 2024


Answer

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 
Additional resources

The application of long-read sequencing in clinical settings

Next Generation Sequencing (NGS)

MagaDye™ 535-ddGTP