Title |
PSCC: Sensitive and Reliable Population-Scale Copy Number Variation Detection Method Based on Low Coverage Sequencing
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Published in |
PLOS ONE, January 2014
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DOI | 10.1371/journal.pone.0085096 |
Pubmed ID | |
Authors |
Xuchao Li, Shengpei Chen, Weiwei Xie, Ida Vogel, Kwong Wai Choy, Fang Chen, Rikke Christensen, Chunlei Zhang, Huijuan Ge, Haojun Jiang, Chang Yu, Fang Huang, Wei Wang, Hui Jiang, Xiuqing Zhang |
Abstract |
Copy number variations (CNVs) represent an important type of genetic variation that deeply impact phenotypic polymorphisms and human diseases. The advent of high-throughput sequencing technologies provides an opportunity to revolutionize the discovery of CNVs and to explore their relationship with diseases. However, most of the existing methods depend on sequencing depth and show instability with low sequence coverage. In this study, using low coverage whole-genome sequencing (LCS) we have developed an effective population-scale CNV calling (PSCC) method. |
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