Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing

@inproceedings{Harismendy2011DetectionOL,
  title={Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing},
  author={Olivier Harismendy and Richard B. Schwab and Lei Bao and Jeff Olson and Sophie Rozenzhak and Steve K. Kotsopoulos and Stephanie J K Pond and Brian K. Crain and Mark S. Chee and Karen S Messer and Darren R. Link and Kelly A. Frazer},
  booktitle={Genome Biology},
  year={2011}
}
Ultra-deep targeted sequencing (UDT-Seq) can identify subclonal somatic mutations in tumor samples. Early assays' limited breadth and depth restrict their clinical utility. Here, we target 71 kb of mutational hotspots in 42 cancer genes. We present novel methods enhancing both laboratory workflow and mutation detection. We evaluate UDT-Seq true sensitivity and specificity (> 94% and > 99%, respectively) for low prevalence mutations in a mixing experiment and demonstrate its utility using six… CONTINUE READING
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