Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders

Abstract : Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a given patient, while avoiding false negative and false positive results. We developed a targeted exome approach (MyoPanel2) in order to optimize genetic diagnosis of neuromuscular disorders. Using this approach, we were able to analyse 306 genes known to be mutated in myopathies as well as in related disorders, obtaining 98.8% target sequence coverage at 20x. Moreover, MyoPanel2 was able to detect 99.7% of 11,467 known mutations responsible for neuromuscular disorders. We have then used several quality control parameters to compare performance of the targeted exome approach with that of whole exome sequencing. The results of this pilot study of 140 DNA samples suggest that targeted exome sequencing approach is an efficient genetic diagnostic test for most neuromuscular diseases.
Type de document :
Article dans une revue
Applied & Translational Genomics, Elsevier, 2015, 7, pp.26-31. 〈10.1016/j.atg.2015.07.006〉
Liste complète des métadonnées

Littérature citée [15 références]  Voir  Masquer  Télécharger

https://hal.archives-ouvertes.fr/hal-01610017
Contributeur : Marc Bartoli <>
Soumis le : jeudi 5 octobre 2017 - 10:09:14
Dernière modification le : vendredi 27 avril 2018 - 10:10:03

Fichier

Gorokhova.pdf
Fichiers éditeurs autorisés sur une archive ouverte

Identifiants

Collections

Citation

Svetlana Gorokhova, Mathieu Cerino, Yves Mathieu, Sebastien Courrier, Jean-Pierre Desvignes, et al.. Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders. Applied & Translational Genomics, Elsevier, 2015, 7, pp.26-31. 〈10.1016/j.atg.2015.07.006〉. 〈hal-01610017〉

Partager

Métriques

Consultations de la notice

123

Téléchargements de fichiers

73