Article
Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.
Clinical chemistry - 1 Apr 2016
Beck Tyler F, Mullikin James C, Biesecker Leslie G
Abstract excerpt
BACKGROUND: Next-generation sequencing (NGS) data are used for both clinical care and clinical research. DNA sequence variants identified using NGS are often returned to patients/participants as part of clinical or research protocols. The current standard of care is to validate NGS variants using Sanger sequencing, which is costly and time-consuming. METHODS: We performed a large-scale, systematic evaluation of...
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