Global variation in copy number in the human genome.
Global variation in copy number in the human genome.
复制标题
人类基因组中拷贝数的全球变化。
DOI：
10.1038/nature05329
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发表时间：
2006-11-23
期刊：
影响因子：
64.8
通讯作者：
Hurles, Matthew E.
中科院分区：
文献类型：
--
作者：
Redon, Richard;Ishikawa, Shumpei;Fitch, Karen R.;Feuk, Lars;Perry, George H.;Andrews, T. Daniel;Fiegler, Heike;Shapero, Michael H.;Carson, Andrew R.;Chen, Wenwei;Cho, Eun Kyung;Dallaire, Stephanie;Freeman, Jennifer L.;Gonzalez, Juan R.;Gratacos, Monica;Huang, Jing;Kalaitzopoulos, Dimitrios;Komura, Daisuke;MacDonald, Jeffrey R.;Marshall, Christian R.;Mei, Rui;Montgomery, Lyndal;Nishimura, Kunihiro;Okamura, Kohji;Shen, Fan;Somerville, Martin J.;Tchinda, Joelle;Valsesia, Armand;Woodwark, Cara;Yang, Fengtang;Zhang, Junjun;Zerjal, Tatiana;Zhang, Jane;Armengol, Lluis;Conrad, Donald F.;Estivill, Xavier;Tyler-Smith, Chris;Carter, Nigel P.;Aburatani, Hiroyuki;Lee, Charles;Jones, Keith W.;Scherer, Stephen W.;Hurles, Matthew E.
DNA序列的拷贝数变异（CNV）具有重要的功能意义，但尚未完全确定。我们通过对来自欧洲、非洲或亚洲四个人群的270名个体的研究，构建了第一代人类基因组CNV图谱（HapMap集合）。使用两种互补技术对这些个体的DNA进行CNV筛查：单核苷酸多态性（SNP）基因分型阵列和基于克隆的比较基因组杂交。在这些人群中发现了1,447个拷贝数可变区，覆盖360兆碱基（占基因组的12%）;这些CNV区域包含数百个基因、疾病位点、功能元件和片段重复。引人注目的是，这些CNV比SNP包含更多的核苷酸含量，强调了CNV在遗传多样性和进化中的重要性。获得的数据描绘了许多CNV的连锁不平衡模式，并揭示了群体之间拷贝数的巨大差异。我们还展示了遗传疾病研究的这种资源的效用。
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. 1,447 copy number variable regions covering 360 megabases (12% of the genome) were identified in these populations; these CNV regions contained hundreds of genes, disease loci, functional elements and segmental duplications. Strikingly, these CNVs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal dramatic variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
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DOI：
10.1038/nrc1299
发表时间：
2004-03
期刊：
Nature reviews. Cancer
影响因子：
--
作者：
通讯作者：
--
影响因子：
56.9
作者：
Bailey, JA;Gu, ZP;Eichler, EE
通讯作者：
Eichler, EE
影响因子：
56.9
作者：
Gonzalez, E;Kulkarni, H;Ahuja, SK
通讯作者：
Ahuja, SK
影响因子：
7
作者：
Fiegler, Heike;Redon, Richard;Carter, Nigel P.
通讯作者：
Carter, Nigel P.
影响因子：
30.8
作者：
Drake, JA;Bird, C;Hirschhorn, JN
通讯作者：
Hirschhorn, JN