Articles with "ngs variants" as a keyword



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

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Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-85182-w

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… read more here.

Keywords: variants 825; ngs variants; 825 clinical; sanger sequencing ... See more keywords