Nature：人类基因组之间的差异图谱被绘制
生物谷报道：既完成人类基因组测序计划之后下一步干什么？目前，科学家们正致力于研究人类基因组彼此之间有什么不同。关于该领域的最新进展，最新的一期（
去年，“国际HapMap项目”发表了一个反映单核苷酸变化的图谱，现在一个国际研究小组甚至绘制出了反映更大范围的差异的图谱，被称为“版本数量变种”（CNV）。这些变种中每个都涉及到个体之间的至少1000个碱基对差别，并且已经被与基因组中的良性变化和致病变化联系起来。新图谱是根据对来自270个人的DNA进行分析得到的。总共发现了超过1400个CNV，涵盖基因组的12%。这使得它们比人们以前所想的要普遍得多，并且说明，除非能够被直接分析，否则这些差异就有可能被目前用来识别遗传疾病中突变基因的方法漏掉。该计划将对人类多种疾病的研究产生重要的影响。
FIGURE 1. Protocol outline for two CNV detection platforms.
The experimental procedures for comparative genome hybridization on the WGTP array and comparative intensity analysis on the 500K EA platform are shown schematically (see Supplementary Methods for details), for a comparison of two male genomes (NA10851 and NA19007). The genome profile shows the log2 ratio of copy number in these two genomes chromosome-by-chromosome. The 500K EA data are smoothed over a five-probe window. Below the genome profiles are expanded plots of chromosome 8, and a 10-Mb window containing a large duplication in NA19007 identified on both platforms (indicated by the red bracket).
原文出处：
Global variation in copy number in the human genome p444
Richard Redon, Shumpei Ishikawa, Karen R. Fitch, Lars Feuk, George H. Perry, T. Daniel Andrews, Heike Fiegler, Michael H. Shapero, Andrew R. Carson, Wenwei Chen, Eun Kyung Cho, Stephanie Dallaire, Jennifer L. Freeman, Juan R. González, Mònica Gratacòs, Jing Huang, Dimitrios Kalaitzopoulos, Daisuke Komura, Jeffrey R. MacDonald, Christian R. Marshall, Rui Mei, Lyndal Montgomery, Kunihiro Nishimura, Kohji Okamura, Fan Shen, Martin J. Somerville, Joelle Tchinda, Armand Valsesia, Cara Woodwark, Fengtang Yang, Junjun Zhang, Tatiana Zerjal, Jane Zhang, Lluis Armengol, Donald F. Conrad, Xavier Estivill, Chris Tyler-Smith, Nigel P. Carter, Hiroyuki Aburatani, Charles Lee, Keith W. Jones, Stephen W. Scherer and Matthew E. Hurles
Abstract | Full Text | PDF (1,166K) | Supplementary information
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