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The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies

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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… Click to show full abstract

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.

Keywords: sequencing; genome sequencing; benefit genome; current benefit; exome sequencing

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023

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