Global variation in copy number in the human genome Export

@article{citeulike:957831, abstract = {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. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12\% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs 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 marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.}, author = {Redon, Richard and Ishikawa, Shumpei and Fitch, Karen R. and Feuk, Lars and Perry, George H. and Andrews, T. Daniel and Fiegler, Heike and Shapero, Michael H. and Carson, Andrew R. and Chen, Wenwei and Cho, Eun K. and Dallaire, Stephanie and Freeman, Jennifer L. and Gonzalez, Juan R. and Gratacos, Monica and Huang, Jing and Kalaitzopoulos, Dimitrios and Komura, Daisuke and MacDonald, Jeffrey R. and Marshall, Christian R. and Mei, Rui and Montgomery, Lyndal and Nishimura, Kunihiro and Okamura, Kohji and Shen, Fan and Somerville, Martin J. and Tchinda, Joelle and Valsesia, Armand and Woodwark, Cara and Yang, Fengtang and Zhang, Junjun and Zerjal, Tatiana and Zhang, Jane and Armengol, Lluis and Conrad, Donald F. and Estivill, Xavier and Tyler-Smith, Chris and Carter, Nigel P. and Aburatani, Hiroyuki and Lee, Charles and Jones, Keith W. and Scherer, Stephen W. and Hurles, Matthew E.}, citeulike-article-id = {957831}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/nature05329}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/nature05329}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/17122850}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=17122850}, doi = {10.1038/nature05329}, issn = {0028-0836}, journal = {Nature}, keywords = {disease, human, map, snp}, month = {November}, number = {7118}, pages = {444--454}, posted-at = {2006-11-24 15:25:39}, priority = {2}, publisher = {Nature Publishing Group}, title = {Global variation in copy number in the human genome}, url = {http://dx.doi.org/10.1038/nature05329}, volume = {444}, year = {2006} }

TY - JOUR ID - citeulike:957831 L3 - citeulike-article-id:957831 N2 - 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. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs 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 marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies. IS - 7118 JF - Nature SN - 0028-0836 EP - 454 TI - Global variation in copy number in the human genome PB - Nature Publishing Group VL - 444 SP - 444 KW - disease KW - human KW - map KW - snp AU - Redon, Richard AU - Ishikawa, Shumpei AU - Fitch, Karen AU - Feuk, Lars AU - Perry, George AU - Andrews, Daniel AU - Fiegler, Heike AU - Shapero, Michael AU - Carson, Andrew AU - Chen, Wenwei AU - Cho, Eun AU - Dallaire, Stephanie AU - Freeman, Jennifer AU - Gonzalez, Juan AU - Gratacos, Monica AU - Huang, Jing AU - Kalaitzopoulos, Dimitrios AU - Komura, Daisuke AU - MacDonald, Jeffrey AU - Marshall, Christian AU - Mei, Rui AU - Montgomery, Lyndal AU - Nishimura, Kunihiro AU - Okamura, Kohji AU - Shen, Fan AU - Somerville, Martin AU - Tchinda, Joelle AU - Valsesia, Armand AU - Woodwark, Cara AU - Yang, Fengtang AU - Zhang, Junjun AU - Zerjal, Tatiana AU - Zhang, Jane AU - Armengol, Lluis AU - Conrad, Donald AU - Estivill, Xavier AU - Tyler-Smith, Chris AU - Carter, Nigel AU - Aburatani, Hiroyuki AU - Lee, Charles AU - Jones, Keith AU - Scherer, Stephen AU - Hurles, Matthew PY - 2006/11/23/ UR - http://dx.doi.org/10.1038/nature05329 ER -