Publication: The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies
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Grether, A., Ivanovski, I., Russo, M., Begemann, A., Steindl, K., Abela, L., Papik, M., Zweier, M., Oneda, B., Joset, P., & Rauch, A. (2023). The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Molecular Genetics & Genomic Medicine, 11, e2148. https://doi.org/10.1002/mgg3.2148
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Background: As the technology of next generation sequencing rapidly develops and costs are constantly reduced, the clinical availability of whole genome sequencing (WGS) increases. Thereby, it remains unclear what exact advantage WGS offers in comparison to whole exome sequencing (WES) for the diagnosis of genetic diseases using current technologies.
Methods: Trio-WGS was conducted for 20 patients with developmental or epileptic encephalopathies who remained undiagnosed after WES and chromosomal microarray analysis.
Results: A diagn
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Grether, A., Ivanovski, I., Russo, M., Begemann, A., Steindl, K., Abela, L., Papik, M., Zweier, M., Oneda, B., Joset, P., & Rauch, A. (2023). The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Molecular Genetics & Genomic Medicine, 11, e2148. https://doi.org/10.1002/mgg3.2148
