Linked-Read Whole Genome Sequencing Solves a Double <i>DMD</i> Gene Rearrangement

Linked-Read Whole Genome Sequencing Solves a Double <i>DMD</i> 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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Bibliographic Details
Main Authors: Maria Elena Onore, Annalaura Torella, Francesco Musacchia, Paola D’Ambrosio, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Giulio Piluso, Vincenzo Nigro
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
10× Genomics
linked-read WGS
undiagnosed diseases
DMD gene
muscular dystrophy
Online Access:https://www.mdpi.com/2073-4425/12/2/133

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