Structural variation
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Unlock the biology of your samples with complete SV characterisation
Structural variants (SVs) are of high importance in both normal and aberrant phenotypes; however, their detection using legacy short-read sequencing technologies is limited by their size, complexity, and position in the genome. Long and ultra-long Oxford Nanopore reads can span SVs end to end enabling unprecedented resolution of even highly complex variants — in any genomic context.
Amplification is not required, avoiding PCR bias and allowing SVs to be identified across the genome, including in repetitive or GC-rich regions, such as repeat expansions, which are inaccessible to other methods. This also enables the sequencing of intact modified bases, so that SVs and their epigenetic effects can be revealed in a single experiment.
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Revolutionising testing for critically ill patients
Vorasuk Shotelersuk’s goal is to enhance patient care through optimal genetic testing. Learn why Oxford Nanopore sequencing has the potential to provide the solution when precision and speed are paramount.
Human variant calling
Long, native nanopore reads enable comprehensive, direct detection of structural variants (SVs). This end-to-end workflow overview explains our best practice sequencing workflow in detail, starting from the recommended extraction method, through to primary analysis.
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Structural variant analysis with Oxford Nanopore
Recommended device for SV characterisation
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PromethION 24
Combining up to 24 independently addressable, high-capacity flow cells with powerful, integrated compute, PromethION 24 delivers flexible, on-demand access to terabases of ultra-rich sequencing data — ideal for comprehensive genomic analysis across large numbers of samples.
