Article

Quality threshold evaluation of Sanger confirmation for results of whole exome sequencing in clinically diagnostic setting

2020-12-09

Abstract excerpt

<h4>Background</h4> With the ability to simultaneously sequence more than 5,000 disease-associated genes, next-generation sequencing (NGS) has replaced Sanger sequencing as the preferred method in the diagnostic field at the laboratory level. However, Sanger sequencing has been used routinely to confirm identified variants prior to reporting results. This validation process causes a turnaround time delay and cost...

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Literature Corpus work: 89bd0cb0-96dd-50bd-8a57-80bfe7515605
DOI: 10.1101/2020.12.08.416792

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