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下一代测序技术在癌症诊断中的临床应用

Clinical Applications of Next-Generation Sequencing in Cancer Diagnosis.

作者信息

Sabour Leila, Sabour Maryam, Ghorbian Saeid

机构信息

Department of Molecular Biology, Ahar Branch, Islamic Azad University, Ahar, Iran.

出版信息

Pathol Oncol Res. 2017 Apr;23(2):225-234. doi: 10.1007/s12253-016-0124-z. Epub 2016 Oct 8.

DOI:10.1007/s12253-016-0124-z
PMID:27722982
Abstract

With the advancement and improvement of new sequencing technology, next-generation sequencing (NGS) has been applied increasingly in cancer genomics research fields. More recently, NGS has been adopted in clinical oncology to advance personalized treatment of cancer. NGS is utilized to novel diagnostic and rare cancer mutations, detection of translocations, inversions, insertions and deletions, detection of copy number variants, detect familial cancer mutation carriers, provide the molecular rationale for appropriate targeted, therapeutic and prognostic. NGS holds many advantages, such as the ability to fully sequence all types of mutations for a large number of genes (hundreds to thousands) and the sensitivity, speed in a single test at a relatively low cost compared to be other sequencing modalities. Here we described the technology, methods and applications that can be immediately considered and some of the challenges that lie ahead.

摘要

随着新测序技术的进步和改进,新一代测序(NGS)在癌症基因组学研究领域的应用越来越广泛。最近,NGS已被应用于临床肿瘤学,以推进癌症的个性化治疗。NGS可用于发现新的诊断性和罕见的癌症突变、检测易位、倒位、插入和缺失、检测拷贝数变异、检测家族性癌症突变携带者,为适当的靶向治疗、治疗和预后提供分子依据。NGS具有许多优势,例如能够对大量基因(数百到数千个)的所有类型突变进行全序列测定,并且与其他测序方式相比,在单次检测中具有灵敏度高、速度快、成本相对较低的特点。在此,我们描述了可以立即考虑的技术、方法和应用以及一些未来面临的挑战。

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Bioinformatics. 2014 Mar 15;30(6):768-74. doi: 10.1093/bioinformatics/btt611. Epub 2013 Nov 4.
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Technical and implementation issues in using next-generation sequencing of cancers in clinical practice.在临床实践中使用癌症下一代测序的技术和实施问题。
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A glimpse into past, present, and future DNA sequencing.
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