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.
journal_name
Naturejournal_title
Natureauthors
Redon R,Ishikawa S,Fitch KR,Feuk L,Perry GH,Andrews TD,Fiegler H,Shapero MH,Carson AR,Chen W,Cho EK,Dallaire S,Freeman JL,González JR,Gratacòs M,Huang J,Kalaitzopoulos D,Komura D,MacDonald JR,Marshall CR,Mei R,Mdoi
10.1038/nature05329subject
Has Abstractpub_date
2006-11-23 00:00:00pages
444-54issue
7118eissn
0028-0836issn
1476-4687pii
nature05329journal_volume
444pub_type
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