2X1 TARGETED ENRICHMENT

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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.

Characterization of structural variants

We have detected and characterized cases with structural variants in patients with antithrombin deficiency using this technology.

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