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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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7909759/
https://ncbi.nlm.nih.gov/pubmed/33494189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12020133
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