Structural variants (SVs) reach up to the megabase scale and account for 10 times as many variants as single nucleotide polymorphisms in the human genome. They contribute to a range of normal and aberrant phenotypes, so it is essential these regions are accurately characterized.
Nanopore technology provides the ability to sequence SVs end-to-end in single reads, allowing simple, accurate characterization and often removing any need for assembly.
For more information, please visit the following resources and pages:
- Structural variation
- White Paper: Advantages of long reads for structural variations analysis
- A guide to characterising structural variants with Oxford Nanopore