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Article

Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.

The Journal of molecular diagnostics : JMD - 1 Jul 2015

Baudhuin Linnea M, Lagerstedt Susan A, Klee Eric W, Fadra Numrah, Oglesbee Devin, Ferber Matthew J

Abstract excerpt

Current clinical laboratory practice guidelines for next-generation sequencing (NGS) do not provide definitive guidance on confirming NGS variants. Sanger confirmation of NGS results can be inefficient, redundant, and expensive. We evaluated the accuracy of NGS-detected single-nucleotide variants (SNVs) and insertion/deletion variants (indels) and the necessity of NGS variant confirmation using four NGS...

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PMID: 25960255
DOI: 10.1016/j.jmoldx.2015.03.004

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