Luesebrink, Jessica, Pieper, Monika, Tillmann, Ramona-Liza, Brockmann, Michael, Schildgen, Oliver ORCID: 0000-0003-4297-9627 and Schildgen, Verena (2018). Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform. Data Brief, 18. S. 1962 - 1967. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 2352-3409

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Abstract

This article presents additional next generation data from our preclinical 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. (C) 2018 The Authors. Published by Elsevier Inc.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Luesebrink, JessicaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pieper, MonikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tillmann, Ramona-LizaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brockmann, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schildgen, OliverUNSPECIFIEDorcid.org/0000-0003-4297-9627UNSPECIFIED
Schildgen, VerenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-183259
DOI: 10.1016/j.dib.2018.04.114
Journal or Publication Title: Data Brief
Volume: 18
Page Range: S. 1962 - 1967
Date: 2018
Publisher: ELSEVIER SCIENCE BV
Place of Publication: AMSTERDAM
ISSN: 2352-3409
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/18325

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