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

Nature

Apr 1, 2010

Donald F ConradMatthew E Hurles

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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

Single Nucleotide Polymorphism
Mutagenesis Process
Dysequilibrium Syndrome
Genetic Linkage
Gene Duplication
Genome-Wide Association Study
EAF2 gene
DNA Copy Number Changes
Cdna Microarrays
Copy Number Polymorphism
2
1
1621
1
1
Paper Details
References
  • References45
  • Citations628
  • References45
  • Citations628
12345...

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

Nature

Apr 1, 2010

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

Single Nucleotide Polymorphism
Mutagenesis Process
Dysequilibrium Syndrome
Genetic Linkage
Gene Duplication
2
1
1621
1
1
Paper Details
References
  • References45
  • Citations628
  • References45
  • Citations628
12345...

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