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

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 diagn...

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Detalles Bibliográficos
Autores principales: Grether, Anna, Ivanovski, Ivan, Russo, Martina, Begemann, Anaïs, Steindl, Katharina, Abela, Lucia, Papik, Michael, Zweier, Markus, Oneda, Beatrice, Joset, Pascal, Rauch, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178799/
https://www.ncbi.nlm.nih.gov/pubmed/36785910
http://dx.doi.org/10.1002/mgg3.2148