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Home > Applications > Structural variation

Structural variation

Long-read nanopore sequencing enables unprecedented characterisation of structural variation. Spanning even very large, highly complex structural variants (SVs), long reads greatly simplify SV detection and resolution, including the elucidation of SVs in previously inaccessible genomic regions, such as repeat-rich or high-GC regions, whilst PCR-free, native DNA sequencing enables simultaneous evaluation of sequence and base modifications.

  • Span entire structural variants in single reads
  • Sequence native DNA, without PCR bias
  • Resolve repetitive and GC-rich regions
  • Achieve rapid sample-to-answer with real-time sequencing
  • Greatly simplify assembly and reduce multi-mapping
  • Scale to your requirements with a range of nanopore sequencing platforms

How will you use nanopore technology?

Perform genome-wide and targeted structural variant calling

Whilst traditional technologies have focused on the study of single nucleotide polymorphisms (SNPs), researchers are increasingly emphasising the need to resolve structural variants (SVs).

Based on current internal flow cell performance of 200 Gb (October 2018).

 Accounting for approximately ten times more variant bases than SNPs, SVs – inversions, insertions, deletions, duplications and translocations – play a significant role in phenotypic variation and a wide range of diseases, including cancer and schizophrenia. SVs are also more likely than SNPs to affect gene expression.

Structural variants may reach megabases in length. With nanopore sequencing, there is no upper read length, and fragmentation is not necessary: SVs are often sequenced in single reads, greatly simplifying their resolution and providing an accurate picture of their sequence and genetic context. Oxford Nanopore provides the complete solution for SV analysis: with simple library preparation, in as little as ten minutes, and real-time sequencing and analysis, including a dedicated SV analysis pipeline, nanopore sequencing is a powerful tool for the study of SVs.

  • Elucidate large SVs with ultra-long reads (> 2 Mb observed)
  • Obtain complete genome assemblies with long-reads – enabling genome-wide SV detection
  • Eliminate bias and detect modifications alongside nucleotide sequence with direct sequencing
  • Accurately resolve highly repetitive and GC-rich regions, such as triplet repeat expansions, with long reads
  • Utilise Cas9 for PCR-free enrichment of large SVs and simultaneous evaluation of methylation
  • Scale to suit your needs — 1.8 Gb Flongle; 30 Gb MinION; 150 Gb GridION; 4,800/9,600 Gb PromethION P24/P48
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