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


ABSTRACT: 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.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.Of the 110 total single-nucleotide variants analyzed, 103 variants had a quality score ?Q500, 103 (100%) of which were confirmed by Sanger sequencing. Of the remaining seven variants with quality scores

SUBMITTER: Strom SP 

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

REPOSITORIES: biostudies-literature

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

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]

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