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

Publication date: Available online 4 September 2015 Source:Applied & Translational Genomics Author(s): Svetlana Gorokhova, Mathieu Cerino, Yves Mathieu, Sébastien Courrier, Jean-Pierre Desvignes, David Salgado, Christophe Béroud, Martin Krahn, Marc Bartoli 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 analyze 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 11467 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.

Source: Applied and Translational Genomics - September 5, 2015 Category: Genetics & Stem Cells Source Type: research