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26 April 2024 |
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Article overview
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Global variation in copy number in the human genome | | 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
; Arm
; 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
; Matthew E Hurles
; | | Date: |
23 Nov 2006 | | Journal: | Nature, 444 (7118), 444-54 | | 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. | | Source: | PubMed, pmid17122850 doi: 10.1038/nature05329 | | Services: | Forum | Review | Favorites | |
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