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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Detalles Bibliográficos
Autores principales: Alfano, Massimiliano, De Antoni, Luca, Centofanti, Federica, Visconti, Virginia Veronica, Maestri, Simone, Degli Esposti, Chiara, Massa, Roberto, D'Apice, Maria Rosaria, Novelli, Giuseppe, Delledonne, Massimo, Botta, Annalisa, Rossato, Marzia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9462847/
https://www.ncbi.nlm.nih.gov/pubmed/36018009
http://dx.doi.org/10.7554/eLife.80229

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9462847/
https://www.ncbi.nlm.nih.gov/pubmed/36018009
http://dx.doi.org/10.7554/eLife.80229

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