ArticleApplied & translational genomics2015
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.
Article in Applied & translational genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Next-Generation Sequencing Data and Clinical Features in Patients with Cleft Palate and Tooth Agenesis: A Systematic Literature Review.Dentistry journal · 2026Review
- Article
- Using gene panels in the diagnosis of neuromuscular disorders: A mini-review.Frontiers in neurology · 2022Review
- First characterization of congenital myasthenic syndrome type 5 in North Africa.Molecular biology reports · 2021Article
- WEScover: selection between clinical whole exome sequencing and gene panel testing.BMC bioinformatics · 2021Article
- Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders.Diagnostics (Basel, Switzerland) · 2021Review
- Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.European journal of neurology · 2020Article
- Early-Life Epilepsies and the Emerging Role of Genetic Testing.JAMA pediatrics · 2017Article
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Authors and funding
9 authors.
Funding
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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 20 ×. 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.
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