Articles with "confirmation testing" as a keyword



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Reducing Sanger confirmation testing through false positive prediction algorithms

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Published in 2021 at "Genetics in Medicine"

DOI: 10.1038/s41436-021-01148-3

Abstract: Purpose Clinical genome sequencing (cGS) followed by orthogonal confirmatory testing is standard practice. While orthogonal testing significantly improves specificity, it also results in increased turnaround time and cost of testing. The purpose of this study… read more here.

Keywords: reducing sanger; confirmatory testing; confirmation testing; false positive ... See more keywords