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Results for "Breakpoints"

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• • Jit@jit.aber

  

  COSMIC

  The accurate description and annotation of structural variants can be complex.  This is due to the different resolution that variants are reported from traditional cytogenetic coordinates down to the actual base pair positions. Furthermore, multiple rearrangements in a single area ...

  Tags: Bioinformatics, COSMIC, Chromosome, Cancer, Rearrangement, Breakpoints

  2786 days ago

• • Jit@jit.aber

  

  GeneBreak: a tool to systematically identify genes recurrently affected by the genomic location of chromosomal CNA-associated breaks by a genome-wide approach

  Development of cancer is driven by somatic alterations, including numerical and structural chromosomal aberrations. Currently, several computational methods are available and are widely applied to detect numerical copy number aberrations (CNAs) of chromosomal segments in tumor genomes. However, t...

  Tags: Bioinformatics, GeneBreak, Chromosome, Genome, NGS, Breakpoints, Genes

  2167 days ago

• • Jit@jit.aber

  

  SRBreak: A Read-Depth and Split-Read Framework to Identify Breakpoints of Different Events Inside Simple Copy-Number Variable Regions

  SRBreak is a read-depth and split-read package written in R for identifying copy-number variants in next-generation sequencing datasets. Note: SBReak was designed to work for multiple samples. It can work for >= 2 samples, but we suggest that users should use >= 5 samples as in the work ...

  Tags: SRBreak, Read-Depth, Split-Read, Framework, Breakpoints, Copy-Number, Variable, Regions

  2195 days ago