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Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform.

ABSTRACT: This article presents additional next generation data from our pre-clinical validation study. In total 121 samples (clinical specimen and interlaboratory test samples) were tested successfully with next generation sequencing. 38 different mutations in six different genes were detected. Next to the detection of different mutations, the reproducibility of the NGS test was analyzed. Three samples were analyzed five times and the results were compared. Several mutations classified as non-pathogenic so far, have been detected repeatedly.

SUBMITTER: Lusebrink J

PROVIDER: S-EPMC5998651 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform.

Lüsebrink Jessica J Pieper Monika M Tillmann Ramona-Liza RL Brockmann Michael M Schildgen Oliver O Schildgen Verena V

Data in brief 20180504

This article presents additional next generation data from our pre-clinical validation study. In total 121 samples (clinical specimen and interlaboratory test samples) were tested successfully with next generation sequencing. 38 different mutations in six different genes were detected. Next to the detection of different mutations, the reproducibility of the NGS test was analyzed. Three samples were analyzed five times and the results were compared. Several mutations classified as non-pathogenic ...[more]

PMID: 29904702

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