Long-read sequencing and structural variation: what can you discover?

Written by Oxford Nanopore

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.

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