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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Detalhes bibliográficos

Principais autores:	Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2023-05-01
Colecção:	Molecular Genetics & Genomic Medicine
Assuntos:	diagnostic yield epileptic encephalopathy whole exome sequencing whole genome sequencing
Acesso em linha:	https://doi.org/10.1002/mgg3.2148
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