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

Autor: Jessica Lüsebrink, Monika Pieper, Ramona-Liza Tillmann, Michael Brockmann, Oliver Schildgen, Verena Schildgen
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Data in Brief, Vol 18, Iss , Pp 1962-1966 (2018)
Druh dokumentu: article
ISSN: 2352-3409
DOI: 10.1016/j.dib.2018.04.114
Popis: 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.
Databáze: Directory of Open Access Journals