将下一代测序技术转化为实践：机遇与必要步骤。
Translating next generation sequencing to practice: opportunities and necessary steps.
机构信息
Philips Research North America, Briarcliff Manor, NY 10510, USA.
出版信息
Mol Oncol. 2013 Aug;7(4):743-55. doi: 10.1016/j.molonc.2013.04.008. Epub 2013 May 15.
Abstract
Next-generation sequencing (NGS) approaches for measuring RNA and DNA benefit from greatly increased sensitivity, dynamic range and detection of novel transcripts. These technologies are rapidly becoming the standard for molecular assays and represent huge potential value to the practice of oncology. However, many challenges exist in the transition of these technologies from research application to clinical practice. This review discusses the value of NGS in detecting mutations, copy number changes and RNA quantification and their applications in oncology, the challenges for adoption and the relevant steps that are needed for translating this potential to routine practice.
摘要
下一代测序（NGS）方法在测量 RNA 和 DNA 方面具有更高的灵敏度、动态范围和新型转录本检测能力。这些技术正迅速成为分子检测的标准，为肿瘤学的实践带来了巨大的潜在价值。然而，从研究应用到临床实践的转化过程中仍然存在许多挑战。本文综述了 NGS 在检测突变、拷贝数变化和 RNA 定量方面的价值及其在肿瘤学中的应用，探讨了采用这些技术所面临的挑战，以及将这一潜力转化为常规实践所需的相关步骤。
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