Article
Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2015
Bhattacharjee Arindam, Sokolsky Tanya, Wyman Stacia K, Reese Martin G, Puffenberger Erik, Strauss Kevin, Morton Holmes, Parad Richard B, Naylor Edwin W
Abstract excerpt
PURPOSE: Genetic testing is routinely used for second-tier confirmation of newborn sequencing results to rule out false positives and to confirm diagnoses in newborns undergoing inpatient and outpatient care. We developed a targeted next-generation sequencing panel coupled with a variant processing pipeline and demonstrated utility and performance benchmarks across multiple newborn disease presentations in a...
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