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下一代测序技术对癌症基因组学的影响:从发现到临床。

The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic.

机构信息

The Ohio State University College of Medicine, Columbus, Ohio 43205.

出版信息

Cold Spring Harb Perspect Med. 2019 Sep 3;9(9):a036269. doi: 10.1101/cshperspect.a036269.

Abstract

The application of next-generation sequencing (NGS) technology to the study of cancer genomes has been transformational. Not only has this technology revealed the genetic and epigenetic underpinnings of disease onset and progression, but also has redefined our clinical diagnosis and treatment paradigms. This rapid translation from discovery to clinical platform has occurred in the context of new pharmaceutical paradigms, enabling the use of NGS for the diagnosis and definition of therapeutic vulnerabilities of cancer. This review explores this transformation and identifies cutting-edge applications of NGS that will result in its additional utility in cancer care.

摘要

下一代测序 (NGS) 技术在癌症基因组研究中的应用具有变革性。这项技术不仅揭示了疾病发生和进展的遗传和表观遗传基础,还重新定义了我们的临床诊断和治疗模式。这种从发现到临床平台的快速转化发生在新的药物治疗模式的背景下,使得 NGS 可用于癌症的诊断和治疗靶点的确定。本文探讨了这一转变,并确定了 NGS 的前沿应用,这些应用将使其在癌症治疗中具有额外的效用。

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