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

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 ch...

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Detalhes bibliográficos

Principais autores:	Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Chiara Degli Esposti, Roberto Massa, Maria Rosaria D'Apice, Giuseppe Novelli, Massimo Delledonne, Annalisa Botta, Marzia Rossato
Formato:	Artigo
Idioma:	Inglês
Publicado em:	eLife Sciences Publications Ltd 2022-08-01
Colecção:	eLife
Assuntos:	myotonic dystrophy type 2 CNBP gene repeat expansion Cas9-mediated enrichment nanopore sequencing
Acesso em linha:	https://elifesciences.org/articles/80229
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