文献_A Single Cell Level Based Method for Copy Number.pdfVIP

A Single Cell Level Based Method for Copy Number Variation Analysis by Low Coverage Massively Parallel Sequencing Chunlei Zhang1,4,5., Chunsheng Zhang1,4,5., Shengpei Chen1,4,5,8., Xuyang Yin1,4,5., Xiaoyu Pan1,4,5,9, 2,6,7 2,7 6 3 3 1,4,5 1,4,5,10 1 Ge Lin , Yueqiu Tan , Ke Tan , Zhengfeng Xu , Ping Hu , Xuchao Li , Fang Chen , Xun Xu , Yingrui Li1, Xiuqing Zhang1,5, Hui Jiang1,4,5,10*, Wei Wang1,4* 1 Science and Technology, BGI-Shenzhen, Shenzhen, China, 2 Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, China, 3 Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital, Nanjing Medical University, Nanjing, China, 4 Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering, BGI-Shenzhen, Shenzhen, China, 5 Guangdong Provincial Key Laboratory of Human Diseases Genome, BGI-Shenzhen, Guangdong, China, 6 Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, China, 7 Key laboratory of Stem Cell and Reproductive Engineering, Ministry of Health, Changsha, China, 8 State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering, Southeast University, Nanjing, China, 9 School of Bioscience and Bioengineering, South China University of Technology, Guangzhou, China, 10 Department of Biology, University of Copenhagen, Copenhagen, Denmark Abstract Copy number variations (CNVs), a common genomic mutation associated with various diseases, are important in research and clinical applications. Whole genome amplification (WGA) and massively parallel sequencing have been applied to single cell CNVs analysis, which provides new insight for the fields of biology and medic