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.
Whole genome sequencing; Genetics; Genetic variation; Oncology
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
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