Comparison of Next-Generation Sequencing and Mutation-Specific Platforms in Clinical Practice

作者: John W. J. Hinrichs , W. T. Marja van Blokland , Michiel J. Moons , Remco D. Radersma , Joyce H. Radersma-van Loon

DOI: 10.1309/AJCP40XETVYAMJPY

关键词:

摘要: Objectives: To compare next-generation sequencing (NGS) platforms with mutation-specific analysis in a clinical setting, terms of sensitivity, mutation specificity, costs, capacity, and ease use. Methods: We analyzed 25 formalin-fixed, paraffin-embedded lung cancer samples different size tumor percentage for known KRAS EGFR hotspot mutations two dedicated genotyping (cobas [Roche Diagnostics, Almere, The Netherlands] Rotor-Gene [QIAGEN, Venlo, Netherlands]) NGS (454 Genome Sequencer [GS] junior Diagnostics] Ion Torrent Personal Machine [Life Technologies, Bleiswijk, Netherlands]). Results: All platforms, except the 454 GS junior, detected originally by Sanger high-resolution melting prescreening an additional mutation. outperformed speed use. large capacity enabled them to deliver all information at once. Conclusions: Sensitivity detecting was highly comparable among platforms. choice either platform or is basically trade-off between genetic information.

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