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JoVE Journal
Biology

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

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

Article DOI: 10.3791/50710-v 11:02 min October 18th, 2013
October 18th, 2013

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Summary

We describe the preparation of barcoded DNA libraries and subsequent hybridization-based exon capture for detection of key cancer-associated mutations in clinical tumor specimens by massively parallel "next generation" sequencing. Targeted exon sequencing offers the benefits of high throughput, low cost, and deep sequence coverage, thus yielding high sensitivity for detecting low frequency mutations.

Tags

Keywords: Somatic Genetic Alterations Tumor Specimens Exon Capture Massively Parallel Sequencing Next-generation Sequencing FFPE Tissue 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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