2018
DOI: 10.1007/s00428-017-2288-7
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Multicenter validation of cancer gene panel-based next-generation sequencing for translational research and molecular diagnostics

Abstract: The simultaneous detection of multiple somatic mutations in the context of molecular diagnostics of cancer is frequently performed by means of amplicon-based targeted next-generation sequencing (NGS). However, only few studies are available comparing multicenter testing of different NGS platforms and gene panels. Therefore, seven partner sites of the German Cancer Consortium (DKTK) performed a multicenter interlaboratory trial for targeted NGS using the same formalin-fixed, paraffin-embedded (FFPE) specimen of… Show more

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Cited by 22 publications
(12 citation statements)
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“…and produced by Illumina, San Diego, CA), a BRCA1/2 panel (produced by Illumina), a hotspot 48-gene panel (TruSeq Amplicon Cancer Panel, Illumina), and a 54-gene myeloid panel (TruSight Myeloid Sequencing Panel, Illumina). 15 - 17 …”
Section: Methodsmentioning
confidence: 99%
“…and produced by Illumina, San Diego, CA), a BRCA1/2 panel (produced by Illumina), a hotspot 48-gene panel (TruSeq Amplicon Cancer Panel, Illumina), and a 54-gene myeloid panel (TruSight Myeloid Sequencing Panel, Illumina). 15 - 17 …”
Section: Methodsmentioning
confidence: 99%
“…NGS in the clinical setting has become widespread in personalized medicine due to its ability to characterize variants throughout the human genome. The Illumina and Thermo Fisher platforms are in widespread use to identify somatic mutations in cancer and to uncover the genetic basis of various inherited diseases (5,6). Application of NGS to infectious disease diagnostics has been slower to evolve for a number of reasons.…”
mentioning
confidence: 99%
“…The guidelines allowing optimization of the procedures of the different analyzes using LB have to be better standardized. Multi-centric and independent validation studies need to be systematically set up to evaluate the reproducibility and the robustness of the different techniques as well as to better control the different steps of the pre-analytical phases [ 122 , 123 , 124 ]. So, a number of initiatives aimed at establishing new recommendations and guidelines have started to emerge [ 125 , 126 , 127 ].…”
Section: Ngs With Blood At Diagnosis Of Advanced Non-small Cell Lung Carcinoma: How To Optimize?mentioning
confidence: 99%