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• W2155707112 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. Where to next after sequencing the human genome? We want to know how human genomes differ from each other. Last year the International HapMap Project published a map of single nucleotide changes, and now an international consortium has mapped even larger areas of differences, called copy number variants (CNVs). Each CNV involves at least 1,000 base-pair differences between individuals, and they have been linked to both benign and disease-causing changes in the genome. The new map is based on analysis of DNA from 270 individuals. Over 1,400 CNVs were found, covering 12% of the genome. This makes them far more prevalent than was thought, and suggests that unless analysed for directly, these differences could be missed by present strategies used to identify genes mutated in genetic diseases. Last year the first map of single nucleotide changes was published; now an international consortium has mapped even larger areas of differences, called copy number variants. These variants are at least 1,000-base-pair differences between individual people, and have been linked to both benign and disease-causing changes in the human genome." @default.
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• W2155707112 date "2006-11-01" @default.
• W2155707112 modified "2023-10-18" @default.
• W2155707112 title "Global variation in copy number in the human genome" @default.
• W2155707112 cites W1482498530 @default.
• W2155707112 cites W1493454437 @default.
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• W2155707112 cites W1969271586 @default.
• W2155707112 cites W1980976241 @default.
• W2155707112 cites W1984095174 @default.
• W2155707112 cites W1987358335 @default.
• W2155707112 cites W1987882116 @default.
• W2155707112 cites W1997476591 @default.
• W2155707112 cites W1998745514 @default.
• W2155707112 cites W2002252858 @default.
• W2155707112 cites W2004610769 @default.
• W2155707112 cites W2013221974 @default.
• W2155707112 cites W2021829013 @default.
• W2155707112 cites W2022832014 @default.
• W2155707112 cites W2025253353 @default.
• W2155707112 cites W2026537232 @default.
• W2155707112 cites W2029306934 @default.
• W2155707112 cites W2030710966 @default.
• W2155707112 cites W2035380874 @default.
• W2155707112 cites W2039001300 @default.
• W2155707112 cites W2041922475 @default.
• W2155707112 cites W2044110911 @default.
• W2155707112 cites W2045040686 @default.
• W2155707112 cites W2055543630 @default.
• W2155707112 cites W2057874793 @default.
• W2155707112 cites W2058539495 @default.
• W2155707112 cites W2059173951 @default.
• W2155707112 cites W2066669827 @default.
• W2155707112 cites W2079256218 @default.
• W2155707112 cites W2080292758 @default.
• W2155707112 cites W2085755265 @default.
• W2155707112 cites W2087019997 @default.
• W2155707112 cites W2087198772 @default.
• W2155707112 cites W2087995131 @default.
• W2155707112 cites W2089251117 @default.
• W2155707112 cites W2091496356 @default.
• W2155707112 cites W2097361093 @default.
• W2155707112 cites W2097605211 @default.
• W2155707112 cites W2098126593 @default.
• W2155707112 cites W2098187463 @default.
• W2155707112 cites W2100315218 @default.
• W2155707112 cites W2100990361 @default.
• W2155707112 cites W2102140136 @default.
• W2155707112 cites W2102260873 @default.
• W2155707112 cites W2102941013 @default.
• W2155707112 cites W2103256993 @default.
• W2155707112 cites W2105051672 @default.
• W2155707112 cites W2106982327 @default.
• W2155707112 cites W2108479075 @default.

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