Advantages of long reads for structural variation analysis

Overview

Structural variants (SVs) account for a greater number of variable bases than single nucleotide variants (SNVs) and have been shown to be responsible for human evolution, genetic diversity, and mechanisms of diseases to a greater extent. However, sequencing SVs with legacy technologies is limited because short reads cannot span the entire length of such complex genomic regions. In this white paper, discover how nanopore sequencing overcomes these limitations with nanopore reads of unrestricted length that span SVs in single reads and further enhance our understanding of genomic diversity and disease.

In this white paper, you will:

• Learn the importance of structural variants and its recent developments
• Discover the limitations of legacy sequencing technologies
• Find out how nanopore sequencing overcomes these limitations
• Read real-world case studies of how researchers are utilising nanopore sequencing to deliver new insights