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An integrative probabilistic model for identification of structural variation in sequencing data

Genome Biology

Mar 29, 2012

Suzanne SindiBenjamin J Raphael

Abstract

Paired-end sequencing is a common approach for identifying structural variation (SV) in genomes. Discrepancies between the observed and expected alignments indicate potential SVs. Most SV detection algorithms use only one of the possible signals and ignore reads with multiple alignments...read more

Mentioned in this Paper

Sequence Inversion
Repetitive Region
Genome
Selfish DNA
Genome Mapping
Genomics
Sequencing
Deletion Mutation
Sequence Determinations, DNA
Two-Parameter Models
8
221
Paper Details
References
  • References50
  • Citations54
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  • References50
  • Citations54
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An integrative probabilistic model for identification of structural variation in sequencing data

Genome Biology

Mar 29, 2012

Suzanne SindiBenjamin J Raphael

PMID: 22452995

DOI: 10.1186/gb-2012-13-3-r22

Abstract

Paired-end sequencing is a common approach for identifying structural variation (SV) in genomes. Discrepancies between the observed and expected alignments indicate potential SVs. Most SV detection algorithms use only one of the possible signals and ignore reads with multiple alignments...read more

Mentioned in this Paper

Sequence Inversion
Repetitive Region
Genome
Selfish DNA
Genome Mapping
Genomics
Sequencing
Deletion Mutation
Sequence Determinations, DNA
Two-Parameter Models
8
221

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.

Open Access Genomics Journals

Discover the latest genomics research in this collection of the top open access genomics journals.

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Paper Details
References
  • References50
  • Citations54
12345
  • References50
  • Citations54
12345...

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