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

Abstract 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 t...

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Hlavní autoři:	Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2023-05-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	diagnostic yield epileptic encephalopathy whole exome sequencing whole genome sequencing
On-line přístup:	https://doi.org/10.1002/mgg3.2148
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