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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-07

AUTHORS

Samuel P. Strom, Hane Lee, Kingshuk Das, Eric Vilain, Stanley F. Nelson, Wayne W. Grody, Joshua L. Deignan

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 variants had a quality score ≥Q500, 103 (100%) of which were confirmed by Sanger sequencing. Of the remaining seven variants with quality scores More... »

PAGES

510

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2013.183

DOI

http://dx.doi.org/10.1038/gim.2013.183

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024767178

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/24406459


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