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Comparison between two different next generation sequencing platforms for clinical relevant gene mutation test in solid tumours.

Silvia BessiFrancesco PepeMarco OttaviantonioPasquale PisapiaUmberto MalapelleGiancarlo TronconeMauro Biancalani
Published in: Journal of clinical pathology (2020)
In the present study, we analysed 44 formalin fixed paraffin embedded (FFPE) from different solid tumours by adopting two different next generation sequencing platforms: GeneReader (QIAGEN, Hilden, Germany) and Ion Torrent (Thermo Fisher Scientific, Waltham, Massachusetts, USA). We highlighted a 100% concordance between the platforms. In addition, focusing on variant detection, we evaluated a very good agreement between the two tests (Cohen's kappa=0.84) and, when taking into account variant allele fraction value for each variant, a very high concordance was obtained (Pearson's r=0.94). Our results underlined the high performance rate of GeneReader on FFPE samples and its suitability in routine molecular predictive practice.
Keyphrases
  • copy number
  • healthcare
  • primary care
  • circulating tumor
  • clinical practice
  • gene expression
  • immune response
  • label free