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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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Bibliografske podrobnosti
izdano v:Genes (Basel)
Main Authors: Onore, Maria Elena, Torella, Annalaura, Musacchia, Francesco, D’Ambrosio, Paola, Zanobio, Mariateresa, Del Vecchio Blanco, Francesca, Piluso, Giulio, Nigro, Vincenzo
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2021
Teme:
Online dostop: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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