Ontology highlight
ABSTRACT:
SUBMITTER: Strom SP
PROVIDER: S-EPMC4079763 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Strom Samuel P SP Lee Hane H Das Kingshuk K Vilain Eric E Nelson Stanley F SF Grody Wayne W WW Deignan Joshua L JL
Genetics in medicine : official journal of the American College of Medical Genetics 20140109 7
<h4>Purpose</h4>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 ...[more]