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Mapping copy number variation by population-scale genome sequencing

Nature

Feb 5, 2011

Ryan E Mills1000 Genomes Project

Abstract

Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs ...read more

Mentioned in this Paper

DNA Copy Number Changes
Genetics, Population
Gene Deletion
Genomics
Sequencing
Tandem
Deletion Mutation
Sequence Determinations, DNA
Nucleotides
Genetic Predisposition to Disease
2
1408
1
2
Paper Details
References
  • References45
  • Citations399
12345
  • References45
  • Citations399
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Related Papers

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Mapping copy number variation by population-scale genome sequencing

Nature

Feb 5, 2011

Ryan E Mills1000 Genomes Project

PMID: 21293372

DOI: 10.1038/nature09708

Abstract

Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs ...read more

Mentioned in this Paper

DNA Copy Number Changes
Genetics, Population
Gene Deletion
Genomics
Sequencing
Tandem
Deletion Mutation
Sequence Determinations, DNA
Nucleotides
Genetic Predisposition to Disease
2
1408
1
2

Feeds With Similar Papers

Chromosomal Deletion

Chromosomal deletion includes the loss of a gene sequence of DNA. The location and the genes deleted determines the significance of this abnormality. There are many identified genetic disorders that are a result from chromosomal deletion including cri du chat and Prader-Willi syndrome. Discover the latest research on chromosomal deletions here.

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

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

NatureOctober 9, 2009
Donald F ConradMatthew E Hurles
Paper Details
References
  • References45
  • Citations399
12345
  • References45
  • Citations399
12345...

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