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

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 assessed...

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Veröffentlicht in:Sci Rep
Hauptverfasser: Arteche-López, A., Ávila-Fernández, A., Romero, R., Riveiro-Álvarez, R., López-Martínez, M. A., Giménez-Pardo, A., Vélez-Monsalve, C., Gallego-Merlo, J., García-Vara, I., Almoguera, Berta, Bustamante-Aragonés, A., Blanco-Kelly, F., Tahsin-Swafiri, S., Rodríguez-Pinilla, E., Minguez, P., Lorda, I., Trujillo-Tiebas, M. J., Ayuso, C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2021
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7952542/
https://ncbi.nlm.nih.gov/pubmed/33707547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-85182-w
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