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

Genes - 21 Jan 2021

Onore Maria Elena, Torella Annalaura, Musacchia Francesco, D'Ambrosio Paola, Zanobio Mariateresa, Del Vecchio Blanco Francesca, Piluso Giulio, Nigro Vincenzo

Abstract excerpt

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 unsolved. This may be due to the current NGS protocols, based on DNA fragmentation and short reads. To overcome these...

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Identifiers

PMID: 33494189
DOI: 10.3390/genes12020133
PMCID: PMC7909759

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