Jan O . Korbel , Variation in the Human Genome Paired - End Mapping Reveals Extensive Structural

نویسندگان

  • Jan O. Korbel
  • D. S. Lauretta
  • B. Klaue
  • J. D. Blum
  • P. R. Buseck
چکیده

www.sciencemag.org (this information is current as of May 12, 2008 ): The following resources related to this article are available online at http://www.sciencemag.org/cgi/content/full/318/5849/420 version of this article at: including high-resolution figures, can be found in the online Updated information and services, http://www.sciencemag.org/cgi/content/full/1149504/DC1 can be found at: Supporting Online Material http://www.sciencemag.org/cgi/content/full/318/5849/420#otherarticles , 8 of which can be accessed for free: cites 22 articles This article 10 article(s) on the ISI Web of Science. cited by This article has been http://www.sciencemag.org/cgi/content/full/318/5849/420#otherarticles 3 articles hosted by HighWire Press; see: cited by This article has been http://www.sciencemag.org/cgi/collection/genetics Genetics : subject collections This article appears in the following http://www.sciencemag.org/about/permissions.dtl in whole or in part can be found at: this article permission to reproduce of this article or about obtaining reprints Information about obtaining

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Paired-end mapping reveals extensive structural variation in the human genome.

Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome-sequencing method to identify structural variants (SVs) approximately 3 kilobases (kb) or larger that combines the rescue and capture of paired ...

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Variation in the Human Genome Paired - End Mapping Reveals Extensive Structural

www.sciencemag.org (this information is current as of July 28, 2008 ): The following resources related to this article are available online at http://www.sciencemag.org/cgi/content/full/318/5849/420 version of this article at: including high-resolution figures, can be found in the online Updated information and services, http://www.sciencemag.org/cgi/content/full/1149504/DC1 can be found at: Su...

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DELLY: structural variant discovery by integrated paired-end and split-read analysis

MOTIVATION The discovery of genomic structural variants (SVs) at high sensitivity and specificity is an essential requirement for characterizing naturally occurring variation and for understanding pathological somatic rearrangements in personal genome sequencing data. Of particular interest are integrated methods that accurately identify simple and complex rearrangements in heterogeneous sequen...

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Methods for the direct detection of copy number variation (CNV) genome-wide have become effective instruments for identifying genetic risk factors for disease. The application of next-generation sequencing platforms to genetic studies promises to improve sensitivity to detect CNVs as well as inversions, indels, and SNPs. New computational approaches are needed to systematically detect these var...

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Genomic structural variation (SV) is a major determinant for phenotypic variation. Although it has been extensively studied in humans, the nucleotide resolution structure of SVs within the widely used model organism Drosophila remains unknown. We report a highly accurate, densely validated map of unbalanced SVs comprising 8962 deletions and 916 tandem duplications in 39 lines derived from short...

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تاریخ انتشار 2007