@article{1137d4db00e940378853b2970827f77c,
title = "Global variation in copy number in the human genome",
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 = "Richard Redon and Shumpei Ishikawa and Fitch, {Karen R.} and Lars Feuk and Perry, {George H.} and Andrews, {T. Daniel} and Heike Fiegler and Shapero, {Michael H.} and Carson, {Andrew R.} and Wenwei Chen and Cho, {Eun Kyung} and Stephanie Dallaire and Freeman, {Jennifer L.} and Gonz{\'a}lez, {Juan R.} and M{\`o}nica Gratac{\`o}s and Jing Huang and Dimitrios Kalaitzopoulos and Daisuke Komura and MacDonald, {Jeffrey R.} and Marshall, {Christian R.} and Rui Mei and Lyndal Montgomery and Kunihiro Nishimura and Kohji Okamura and Fan Shen and Somerville, {Martin J.} and Joelle Tchinda and Armand Valsesia and Cara Woodwark and Fengtang Yang and Junjun Zhang and Tatiana Zerjal and Jane Zhang and Lluis Armengol and Conrad, {Donald F.} and Xavier Estivill and Chris Tyler-Smith and Carter, {Nigel P.} and Hiroyuki Aburatani and Charles Lee and Jones, {Keith W.} and Scherer, {Stephen W.} and Hurles, {Matthew E.}",
note = "Funding Information: Acknowledgements We thank D. Altshuler, C. Bird, Y. Chen, M. Daly, C. Fahey, A. M. Joseph-George, Y. He, K. Hirose, Z. Hu, V. Jayanth, C. Langford, M. Li, C. Lu, G. Liu, Z. Liu, H. Meguro, L. Pantano, T. Paton, I. Pe{\textquoteright}er, S. Pullenayegum, Y. Qi, S. Russell, M. Schachowsky, M. Shago, K. Shiina and Y. Xue for advice, sharing data, cell lines, technical assistance or bioinformatics support. The Centre for Applied Genomics at The Hospital for Sick Children and the Microarray Facility of the Wellcome Trust Sanger Institute are acknowledged for database support and array printing, respectively. We also thank J. R. Lupski and J. Pritchard for comments on earlier versions of the manuscript. The research was supported by The Wellcome Trust (M.E.H., N.P.C., C.T.S.), Canada Foundation of Innovation and Ontario Innovation Trust (S.W.S.), Canadian Institutes of Health Research (CIHR) (S.W.S.), Genome Canada/Ontario Genomics Institute (S.W.S.), the McLaughlin Centre for Molecular Medicine (S.W.S.), Ontario Ministry of Research and Innovation (S.W.S.), the Hospital for Sick Children Foundation (S.W.S.), The Department of Pathology, Brigham and Women{\textquoteright}s Hospital (C.L.), The Leukemia and Lymphoma Society (C.L.), the Core Research for Evolutional Science and Technology (CREST) from the Japan Science and Technology Agency, Grant-in-Aid for Scientific Research (H.A.), Grants-in-Aid for Young Scientists and Scientific Research on Priority Areas {\textquoteleft}Applied Genomics{\textquoteright} from the Ministry of Education, Culture, Sports, Science and Technology of Japan (S.I.), the {\textquoteleft}Departament d{\textquoteright}Universitats Recerca i Societat de la Informaci{\'o}{\textquoteright} (X.E.) and the Genoma Espa{\~n}a and Genome Canada joint R1D1I projects (X.E. and S.W.S.), the Generalitat de Catalunya (Departament d{\textquoteright}Universitats and Departament de Salut), the {\textquoteleft}Fondo de Investigaciones Sanitarias de la Seguridad Social, Instituto de Salud Carlos III{\textquoteright}, and the National Genotyping Center Barcelona Node (CeGen) supported by Genoma Espa{\~n}a (X.E.), and a Packard Fellowship to J. K. Pritchard (D.C.). L.F. is supported by a fellowship from CIHR; R.R. by a Sanger Institute Postdoctoral Fellowship; and A.C. from the Natural Science and Engineering Research Council. S.W.S. is an Investigator of the CIHR and International Scholar of the Howard Hughes Medical Institute.",
year = "2006",
month = nov,
day = "23",
doi = "10.1038/nature05329",
language = "English (US)",
volume = "444",
pages = "444--454",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "7118",
}