期刊
GENOME BIOLOGY
卷 15, 期 8, 页码 -出版社
BMC
DOI: 10.1186/s13059-014-0420-4
关键词
-
资金
- National Cancer Institute [1R21CA152613]
- CIRM Highly Active Anti-Leukemia Stem Cell Therapy (HALT) team grant [DR1-01430]
- National Institutes of Health Grant [UL1TR000100]
Accurate allele frequencies are important for measuring subclonal heterogeneity and clonal evolution. Deep-targeted sequencing data can contain PCR duplicates, inflating perceived read depth. Here we adapted the Illumina TruSeq Custom Amplicon kit to include single molecule tagging (SMT) and show that SMT-identified duplicates arise from PCR. We demonstrate that retention of PCR duplicate reads can imply clonal evolution when none exists, while their removal effectively controls the false positive rate. Additionally, PCR duplicates alter estimates of subclonal heterogeneity in tumor samples. Our method simplifies PCR duplicate identification and emphasizes their removal in studies of tumor heterogeneity and clonal evolution.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据