CopySeq 1.7.1 – Discovery and Copy-number Genotyping of Genomic Structural Variants

CopySeq 1.7.1

:: DESCRIPTION

CopySeq is a novel computational approach with an underlying statistical framework that analyzes the depth-of-coverage of high-throughput DNA sequencing reads, and can integrate paired-end and breakpoint junction analysis based CNV-analysis approaches, to infer locus copy-number genotypes.

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::DEVELOPER

Korbel Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Windows/Linux/MacOsX
  • Java
  • Jim Kent’s twoBitToFa program (available here)
  • SAMtools

:: DOWNLOAD

 CopySeq

:: MORE INFORMATION

Citation

Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, et al. (2010)
Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity.
PLoS Comput Biol 6(11): e1000988.