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QDNAseq and HiC

QDNAseq and HiC

QDNAseq and HiC are R scripts to detect, characterize copy number variation (CNV) and chromosomal rearrangements in human tumor samples. These scripts use Hi-C data.

Topic

Whole genome sequencing; Genetics; Genetic variation; Oncology

Details

  • Operation: Genetic variation analysis; Copy number estimation
  • Software interface: Command-line user interface
  • Language: R
  • Operating system: Microsoft Windows, Mac OS X, Linux
  • License: Not stated
  • Cost: Free
  • Version name: 1.0
  • Credit: The Biotechnology and Biological Science Research Council, UK, Cancer Research UK and the University of Cambridge.
  • Contact: Louise Harewood louise.harewood _at_ cruk.cam.ac.uk
  • Collection: -

Publications

Harewood L, Kishore K, Eldridge MD, Wingett S, Pearson D, Schoenfelder S, Collins VP, Fraser P "Hi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours." Genome Biol. 2017 Jun 27;18(1):125. https://doi.org/10.1186/s13059-017-1253-8
PMID: 28655341
PMCID: PMC5488307


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