A guide to characterising structural variants with Oxford Nanopore
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Overview
Structural variants (SVs) are genomic variants ranging from 50 bp to the megabase scale, and play a significant role in both healthy phenotypes and diseases, such as cancer and rare genetic disorders. However, accurate analysis and investigation of SVs have been limited by legacy short-read sequencing.
In this getting started guide, find out how nanopore sequencing can capture complete SVs in single reads for accurate characterisation — without PCR or additional library preparation steps — to understand their role in disease as well as in plant traits, such as crop yield and climate resilience.
In this getting started guide, you will:
- Find out how nanopore reads of any length enable accurate SV characterisation and precise nucleotide-level identification of breakpoint junctions
- Discover the benefits of nanopore sequencing
- Identify the appropriate nanopore sequencing kit for your experiment
- For any questions, see the FAQs for this technique
- Read real-world case studies of how researchers are utilising nanopore sequencing to simplify assembly and unlock highly complex SVs in rare diseases