Single-cell paired-end genome sequencing reveals structural variation per cell cycle

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Single-cell paired-end genome sequencing reveals structural variation per cell cycle

The nature and pace of genome mutation is largely unknown. Because standard methods sequence DNA from populations of cells, the genetic composition of individual cells is lost, de novo mutations in cells are concealed within the bulk signal and per cell cycle mutation rates and mechanisms remain elusive. Although single-cell genome analyses could resolve these problems, such analyses are error-...

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

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: Sup...

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Modeling genome coverage in single-cell sequencing

MOTIVATION Single-cell DNA sequencing is necessary for examining genetic variation at the cellular level, which remains hidden in bulk sequencing experiments. But because they begin with such small amounts of starting material, the amount of information that is obtained from single-cell sequencing experiment is highly sensitive to the choice of protocol employed and variability in library prepa...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2013

ISSN: 1362-4962,0305-1048

DOI: 10.1093/nar/gkt345