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由外显子捕获和大规模平行测序检测体细胞遗传学改变在肿瘤标本

JoVE Journal
Biologia

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JoVE Journal Biologia

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing

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由外显子捕获和大规模平行测序检测体细胞遗传学改变在肿瘤标本

DOI:

10.3791/50710-v

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11:02 min

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October 18, 2013

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Helen H Won, Sasinya N Scott, A. Rose Brannon, Ronak H Shah, Michael F Berger²

¹Department of Pathology,Memorial Sloan-Kettering Cancer Center, ²Human Oncology and Pathogenesis Program,Memorial Sloan-Kettering Cancer Center

Capítulos

00:05Título
02:08Library Preparation: End Repair
04:12Library Preparation: dA-Tailing and Adapter Ligation
05:55Roche Nimblegen SeqCAP EZ Library Hybridization, Wash, and Amplification
08:31Tumor-normal Pair Analysis
10:08Conclusion

Summary

Tadução automática

我们描述条形码DNA文库和随后的杂交为基础的外显子捕获检测的关键癌症相关的基因突变在临床肿瘤标本通过大规模并行的“下一代”测序的准备。靶向外显子的测序提供了高吞吐量，低成本，以及深的序列覆盖率的好处，从而产生较高的灵敏度，用于检测低频率突变。

Tags

Keywords: Somatic Genetic Alterations Tumor Specimens Exon Capture Massively Parallel Sequencing Next-generation Sequencing Cancer-associated Mutations Sequence Mutations Copy Number Alterations Structural Rearrangements Targeted Exon Sequencing High Throughput Low Cost Deep Sequence Coverage High Sensitivity

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