Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.

ABSTRACT:

Purpose

Sanger sequencing is currently considered the gold standard methodology for clinical molecular diagnostic testing. However, next-generation sequencing has already emerged as a much more efficient means to identify genetic variants within gene panels, the exome, or the genome. We sought to assess the accuracy of next-generation sequencing variant identification in our clinical genomics laboratory with the goal of establishing a quality score threshold for confirmatory Sanger-based testing.

Methods

Confirmation data for reported results from 144 sequential clinical exome-sequencing cases (94 unique variants) and an additional set of 16 variants from comparable research samples were analyzed.

Results

Of the 110 total single-nucleotide variants analyzed, 103 varia

SUBMITTER: Strom SP 

PROVIDER: S-EPMC4079763 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature