Structural variant characterization

We have detected and characterized by nanopore sequencing structural variants in patients with different disorders.
Nanopore sequencing by whole genome sequencing or targeted sequencing by enrichment methods has allow us to resolve all structural variants (regardless the size or type) at a nucleotide level. We have studied the features such us: extension, breakpoint and repetitive elements implications.

Read more:

https://pubmed.ncbi.nlm.nih.gov/35764313/

https://pubmed.ncbi.nlm.nih.gov/35218943/