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Towards a comprehensive structural variation map of an individual human genome

Genome Biology

May 21, 2010

Andy Wing Chun PangStephen W Scherer

Abstract

Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation of larger structural variants has been less co...read more

Mentioned in this Paper

Real-Time Polymerase Chain Reaction
Genome-Wide Association Study
Sequence Chromatogram
Short Interspersed Nucleotide Elements
Fluorescent in Situ Hybridization
Microarray Analysis
DNA Copy Number Changes
Exons
Genome
Interphase
1
376
1
Paper Details
References
  • References44
  • Citations113
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  • References44
  • Citations113
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Towards a comprehensive structural variation map of an individual human genome

Genome Biology

May 21, 2010

Andy Wing Chun PangStephen W Scherer

PMID: 20482838

DOI: 10.1186/gb-2010-11-5-r52

Abstract

Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation of larger structural variants has been less co...read more

Mentioned in this Paper

Real-Time Polymerase Chain Reaction
Genome-Wide Association Study
Sequence Chromatogram
Short Interspersed Nucleotide Elements
Fluorescent in Situ Hybridization
Microarray Analysis
DNA Copy Number Changes
Exons
Genome
Interphase
1
376
1

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.

Comparative Sequencing

Inter/Intra-Species: Comparative Sequencing describes the sequencing techniques that compare between and within species genomes. Discover the latest research on comparative sequencing of inter/intra-species here.

Related Papers

Nature

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

NatureOctober 9, 2009
Donald F ConradMatthew E Hurles
Nature

Global variation in copy number in the human genome

NatureNovember 24, 2006
Richard RedonMatthew E Hurles
Paper Details
References
  • References44
  • Citations113
12345
  • References44
  • Citations113
12345...

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