genetic structures of copy number variants revealed by genotyping single sperm基因拷贝数变异结构揭示了基因分型单精子.pdfVIP

Genetic Structures of Copy Number Variants Revealed by Genotyping Single Sperm 1 1 2¤a 3 1 Minjie Luo , Xiangfeng Cui , David Fredman , Anthony J. Brookes , Marco A. Azaro , Danielle M. 1 1 1¤b 1 4 5 Greenawalt , Guohong Hu , Hui-Yun Wang , Irina V. Tereshchenko , Yong Lin , Yue Shentu , Richeng 1 1 1 Gao , Li Shen , Honghua Li * 1 Department of Molecular Genetics, Microbiology, and Immunology/The Cancer Institute of New Jersey, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America, 2 Bergen Center for Computational Science, University of Bergen, Bergen, Norway, 3 Department of Genetics, University of Leicester, Leicester, United Kingdom, 4 Department of Biometry, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, Piscataway, New Jersey, United States of America, 5 Department of Statistics, Rutgers University, Hill Center for the Mathematical Sciences, Piscataway, New Jersey, United States of America Abstract Background: Copy number variants (CNVs) occupy a significant portion of the human genome and may have important roles in meiotic recombination, human genome evolution and gene expression. Many genetic diseases may be underlain by CNVs. However, because of the presence of their multiple copies, variability in copy numbers and the diploidy of the human genome, detailed genetic structure of CNVs cannot be readily studied by available techniques. Methodology/Principal Findings: Single sperm samples