Nanopore Digest: 25th April 2019
Wed 24th April 2019
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Targeted nanopore sequencing with Cas9 for studies of methylation, structural variants and mutations
In this pre-print, Gilpatrick et al. describe a technique for target enrichment using Cas9-mediated cleavage and nanopore sequencing called ‘nanopore Cas9 Targeted-Sequencing’ (nCATS). Applying this technique to the well characterised GM12878 cell line and three breast cell lines, they were able to obtain several hundred-fold improvement in depth of coverage at the 10 targeted genomic loci, compared to that achieved without enrichment. Due to the ability to directly sequence epigenetic modifications using nanopore sequencing, the team successfully performed in-depth methylation profiling of the targeted regions, as well as detection of structural variants and SNPs, within the same sequencing run.
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