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Article

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

Scientific reports - 11 Mar 2021

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

Abstract excerpt

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 this need in 1109 variants from 825 clinical exomes, the largest sample set to date assessed using Illumina...

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Identifiers

PMID: 33707547
DOI: 10.1038/s41598-021-85182-w
PMCID: PMC7952542

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