Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

Abstract Despite the improved accuracy of next-generation sequencing (NGS), it is widely accepted that variants need to be validated using Sanger sequencing before reporting. Validation of all NGS variants considerably increases the turnaround time and costs of clinical diagnosis. We comprehensively...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: A. Arteche-López, A. Ávila-Fernández, R. Romero, R. Riveiro-Álvarez, M. A. López-Martínez, A. Giménez-Pardo, C. Vélez-Monsalve, J. Gallego-Merlo, I. García-Vara, Berta Almoguera, A. Bustamante-Aragonés, F. Blanco-Kelly, S. Tahsin-Swafiri, E. Rodríguez-Pinilla, P. Minguez, I. Lorda, M. J. Trujillo-Tiebas, C. Ayuso
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
R
Q
Acceso en línea:https://doaj.org/article/3232ae8192614cb485634017846e2717
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares