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

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 d...

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Detalles Bibliográficos
Autores principales: Lüsebrink, Jessica, Pieper, Monika, Tillmann, Ramona-Liza, Brockmann, Michael, Schildgen, Oliver, Schildgen, Verena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Pharmacology, Toxicology and Pharmaceutical Science   
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998651/
https://www.ncbi.nlm.nih.gov/pubmed/29904702
http://dx.doi.org/10.1016/j.dib.2018.04.114
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author Lüsebrink, Jessica
Pieper, Monika
Tillmann, Ramona-Liza
Brockmann, Michael
Schildgen, Oliver
Schildgen, Verena
author_facet Lüsebrink, Jessica
Pieper, Monika
Tillmann, Ramona-Liza
Brockmann, Michael
Schildgen, Oliver
Schildgen, Verena
author_sort Lüsebrink, Jessica
collection PubMed
description 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.
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spelling pubmed-59986512018-06-14 Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform Lüsebrink, Jessica Pieper, Monika Tillmann, Ramona-Liza Brockmann, Michael Schildgen, Oliver Schildgen, Verena Data Brief Pharmacology, Toxicology and Pharmaceutical Science    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. Elsevier 2018-05-04 /pmc/articles/PMC5998651/ /pubmed/29904702 http://dx.doi.org/10.1016/j.dib.2018.04.114 Text en © 2018 The Authors http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Pharmacology, Toxicology and Pharmaceutical Science   
Lüsebrink, Jessica
Pieper, Monika
Tillmann, Ramona-Liza
Brockmann, Michael
Schildgen, Oliver
Schildgen, Verena
Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform
title Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform
title_full Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform
title_fullStr Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform
title_full_unstemmed Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform
title_short Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform
title_sort detailed overview on the mutations detected by and the sensitivity of the genereader ngs sequencing platform
topic Pharmacology, Toxicology and Pharmaceutical Science   
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5998651/
https://www.ncbi.nlm.nih.gov/pubmed/29904702
http://dx.doi.org/10.1016/j.dib.2018.04.114
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