Characterization of structural variants

We have detected and characterized cases with structural variants in patients with antithrombin deficiency using this technology. Whole-genome nanopore sequencing or genomic enrichment has allowed the resolution of structural variants at the nucleotide level, defining the extent, breakpoints, and implicated mechanism.

The structural variants include deletions, duplications, complex structural variants, and retrotransposon insertions.

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Study of CRISPR-Cas9 cutting efficiency

We have studied the cutting efficiency of a genomic region that has undergone CRISPR-Cas9 cleavage using PCR sequencing.

Analysis of haplotype of a mutation

We have resolved the haplotype of a mutation, defining its origin in different cases, obtaining 13 common markers in all of them.

Detection of the genetic basis of a case with a rare disease.

Nanopore sequencing has enabled the detection of the genetic basis of 3 cases with a rare disease (antithrombin deficiency) that did not have a molecular diagnosis.