Next generation sequencing (NGS) represents a key diagnostic tool to identify clinically relevant gene alterations for treatment-decision making in cancer care. However, the complex manual workflow required for NGS has limited its implementation in routine clinical practice. In this worldwide study, we validated the clinical performance of the TargetPlex FFPE-Direct DNA Library Preparation Kit for NGS analysis. Impressively, this new assay obviates the need for separate, labour intensive and time-consuming pre-analytical steps of DNA extraction, purification and isolation from formalin-fixed paraffin embedded (FFPE) specimens in the NGS workflow.
TargetPlex FFPE-Direct DNA Library Preparation Kit for SiRe NGS panel: an international performance evaluation study / Malapelle, Umberto; Pepe, Francesco; Pisapia, Pasquale; Sgariglia, Roberta; Nacchio, Mariantonia; Barberis, Massimo; Bilh, Michel; Bubendorf, Lukas; Büttner, Reinhard; Cabibi, Daniela; Castiglia, Marta; De Andrea, Carlos E; de Biase, Dario; Dumur, Catherine I; Fontanini, Gabriella; Freire, Javier; Gristina, Valerio; Hofman, Paul; Ilie, Marius; Lozano, Maria Dolores; Merkelbach-Bruse, Sabine; Pappesch, Roberto; Pelusi, Natalie; Roma, Gianluca; Russo, Antonio; Savic, Spasenija; Siemanowski, Janna; Tallini, Giovanni; Tischler, Verena; Vander Borght, Sara; Weynand, Birgit; Xu, Tom; Troncone, Giancarlo. - In: JOURNAL OF CLINICAL PATHOLOGY. - ISSN 0021-9746. - (2021). [10.1136/jclinpath-2021-207450]
TargetPlex FFPE-Direct DNA Library Preparation Kit for SiRe NGS panel: an international performance evaluation study
Malapelle, Umberto;Pepe, Francesco;Pisapia, Pasquale;Sgariglia, Roberta;Nacchio, Mariantonia;Troncone, Giancarlo
2021
Abstract
Next generation sequencing (NGS) represents a key diagnostic tool to identify clinically relevant gene alterations for treatment-decision making in cancer care. However, the complex manual workflow required for NGS has limited its implementation in routine clinical practice. In this worldwide study, we validated the clinical performance of the TargetPlex FFPE-Direct DNA Library Preparation Kit for NGS analysis. Impressively, this new assay obviates the need for separate, labour intensive and time-consuming pre-analytical steps of DNA extraction, purification and isolation from formalin-fixed paraffin embedded (FFPE) specimens in the NGS workflow.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.