Clinical Integration of Next-Generation Sequencing Technology

作者: R.R. Gullapalli , M. Lyons-Weiler , P. Petrosko , R. Dhir , M.J. Becich

DOI: 10.1016/J.CLL.2012.07.005

关键词:

摘要: Recent advances in next-generation sequencing (NGS) methods and technology have substantially reduced costs operational complexity leading to production of benchtop sequencers commercial software solutions for implementation small research clinical laboratories. This article addresses requirements limitations successful these systems, including (1) calibration validation the instrumentation, experimental paradigm, primary readout, (2) secure data transfer, storage, secondary processing, (3) tools targeted analysis, (4) training personnel evaluate fidelity interpret molecular significance genomic output.

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