Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Next generation sequencing (NGS) has changed our approach to diagnosis of genetic disorders. Nowadays, the most comprehensive application of NGS is whole genome sequencing (WGS) that is able to detect virtually all DNA variations. However, even after accurate WGS, many genetic conditions remain unso...

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Detalles Bibliográficos
Autores principales: Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909759/
https://www.ncbi.nlm.nih.gov/pubmed/33494189
http://dx.doi.org/10.3390/genes12020133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909759/
https://www.ncbi.nlm.nih.gov/pubmed/33494189
http://dx.doi.org/10.3390/genes12020133

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