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.

journal_name

Nature

journal_title

Nature

authors

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,M

doi

10.1038/nature05329

subject

Has Abstract

pub_date

2006-11-23 00:00:00

pages

444-54

issue

7118

eissn

0028-0836

issn

1476-4687

pii

nature05329

journal_volume

444

pub_type

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