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Origins and functional impact of copy number variation in the human genome

Nature

Oct 9, 2009

Donald F ConradMatthew E Hurles

Abstract

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to generate a comprehensive map of 11,700 copy num...read more

Mentioned in this Paper

Genome-Wide Association Study
DNA Copy Number Changes
Dysequilibrium Syndrome
Base Pairing
Cdna Microarrays
Oligonucleotide Arrays
Genetic Predisposition to Disease
Single Nucleotide Polymorphism
Genetic Linkage
Genome, Human
2
1
1636
1
1
Paper Details
References
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  • Citations742
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Copy Number Variation

Copy number variation refers to alterations in the number of gene copies or DNA sequences. It can be a duplication, amplification, or a deletion event. Here is the latest research.

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Origins and functional impact of copy number variation in the human genome

Nature

Oct 9, 2009

Donald F ConradMatthew E Hurles

PMID: 19812545

DOI: 10.1038/nature08516

Abstract

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, comprising 42 million probes, to generate a comprehensive map of 11,700 copy num...read more

Mentioned in this Paper

Genome-Wide Association Study
DNA Copy Number Changes
Dysequilibrium Syndrome
Base Pairing
Cdna Microarrays
Oligonucleotide Arrays
Genetic Predisposition to Disease
Single Nucleotide Polymorphism
Genetic Linkage
Genome, Human
2
1
1636
1
1

Similar Papers Found In These Feeds

General Biology Journal eTOCs

Discover the latest general biology research in this collection of the top biology journals.

Chromosomal Duplication

Chromosomal duplication is a result of extra genetic material within the area of the chromosome. The duplication may have no effect or may be expressed in the phenotype of that individual. Some duplications are thought to be of evolutionary selection. Discover the latest research on chromosomal duplication here.

Related Papers

Nature

Global variation in copy number in the human genome

NatureNovember 24, 2006
Richard RedonMatthew E Hurles
Nature Genetics

Integrated detection and population-genetic analysis of SNPs and copy number variation

Nature GeneticsSeptember 9, 2008
Steven A McCarrollDavid A Altshuler
Paper Details
References
  • References50
  • Citations742
12345
  • References50
  • Citations742
12345...
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