Journal
GENOME BIOLOGY
Volume 12, Issue 12, Pages -Publisher
BIOMED CENTRAL LTD
DOI: 10.1186/gb-2011-12-12-r124
Keywords
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Funding
- California Institute for Regenerative Medicine [DR1-01430]
- National Center for Research Resources [1UL1RR031980-01]
- National Cancer Institute [1R21CA152613-01, 1R21CA155615- 01A1]
- NATIONAL CANCER INSTITUTE [R21CA155615, R21CA152613] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR031980] Funding Source: NIH RePORTER
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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 tumor samples. With an improved performance when run on the Illumina Miseq, the UDT-Seq assay is well suited for clinical applications to guide therapy and study clonal selection in heterogeneous samples.
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