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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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genes (Basel)
Hauptverfasser: Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI 2021
Schlagworte:
Online Zugang: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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