Global variation in copy number in the human genome.

Nature 2006 Nov;444(7118):444-54

The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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.

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http://dx.doi.org/10.1038/nature05329DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2669898PMC
November 2006
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References

(Supplied by CrossRef)

AJ Iafrate et al.
Nature Genet. 2004

J Sebat et al.
Science 2004

AJ Sharp et al.
Am. J. Hum. Genet. 2005

E Tuzun et al.
Nature Genet. 2005

DF Conrad et al.
Nature Genet. 2006

DA Hinds et al.
Nature Genet. 2006

SA McCarroll et al.
Nature Genet. 2006

DP Locke et al.
Am. J. Hum. Genet. 2006

D Fredman et al.
Nature Genet. 2004

L Feuk et al.
Nature Rev. Genet. 2006

JL Freeman et al.
Genome Res. 2006

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