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Characterization of structural variants with single molecule and hybrid sequencing approaches

Bioinformatics

Oct 31, 2014

Anna RitzBenjamin J Raphael

Abstract

Structural variation is common in human and cancer genomes. High-throughput DNA sequencing has enabled genome-scale surveys of structural variation. However, the short reads produced by these technologies limit the study of complex variants, particularly those involving repetitive regio...read more

Mentioned in this Paper

Repetitive Region
Genome
Selfish DNA
Complete Hydatidiform Mole
Genomics
Sequencing
Deletion Mutation
Sequence Determinations, DNA
Nucleotides
Chromosomes
15
2
107
Paper Details
References
  • References38
  • Citations17
1234
  • References38
  • Citations17
12

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Structural Variation Detection

Structural variations, such as insertions, deletions, inversions, and duplications, are a common feature in human genomes, and a number of studies have reported that such variations are associated with human diseases. Here is the latest research focusing on structural variation detection.


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Characterization of structural variants with single molecule and hybrid sequencing approaches

Bioinformatics

Oct 31, 2014

Anna RitzBenjamin J Raphael

PMID: 25355789

DOI: 10.1093/bioinformatics/btu714

Abstract

Structural variation is common in human and cancer genomes. High-throughput DNA sequencing has enabled genome-scale surveys of structural variation. However, the short reads produced by these technologies limit the study of complex variants, particularly those involving repetitive regio...read more

Mentioned in this Paper

Repetitive Region
Genome
Selfish DNA
Complete Hydatidiform Mole
Genomics
Sequencing
Deletion Mutation
Sequence Determinations, DNA
Nucleotides
Chromosomes
15
2
107

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.

Structural Variation Detection

Structural variations, such as insertions, deletions, inversions, and duplications, are a common feature in human genomes, and a number of studies have reported that such variations are associated with human diseases. Here is the latest research focusing on structural variation detection.


Related Papers

Zhonghua bing li xue za zhi Chinese journal of pathology

Third-generation DNA sequencing: single molecule real-time DNA sequencing

Zhonghua bing li xue za zhi Chinese journal of pathologyFebruary 11, 2012
Yan Liu, Bing-quan Wu
Current Opinion in Biotechnology

Genome-scale DNA sequencing: where are we?

Current Opinion in BiotechnologyMarch 21, 1998
S Beck, P Sterk
Paper Details
References
  • References38
  • Citations17
1234
  • References38
  • Citations17
12

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