Article

Characterization of full-length <i>CNBP</i> expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing

2022-05-12

Abstract excerpt

<h4>ABSTRACT</h4> Myotonic dystrophy type 2 (DM2) is caused by CCTG repeat expansions in the CNBP gene, comprising 75 to >11,000 units and featuring extensive mosaicism, making it challenging to sequence fully-expanded alleles. To overcome these limitations, we used PCR-free Cas9-mediated nanopore sequencing to characterize CNBP repeat expansions at the single-nucleotide level in nine DM2 patients. The length o...

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Literature Corpus work: 0c7d827c-5e40-5032-a085-08b8ec8277ea
DOI: 10.1101/2022.05.12.491603

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Characterization of full-length <i>CNBP</i> expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencingDOI 10.1101/2022.05.12.491603Read

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