Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants.

ABSTRACT:

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 Sanger-based validation of NGS variants using data from the ClinSeq® project. We first used NGS data from 19 genes in 5 participants, comparing them to high-throughput Sanger sequencing results on the same samples, and found no discrepancies among 234 NGS variants. We then compared NGS variants in 5 genes from 684 participants against data from Sanger sequencing.

Res

SUBMITTER: Beck TF 

PROVIDER: S-EPMC4878677 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature