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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2014

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24406459
DOI: 10.1038/gim.2013.183
PMCID: PMC4079763

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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