Sequenza package provides tools to genotyping cancer samples, cancer cellularity, ploidy, copy number variation (CNV), and infer alleles that are mutated.
Genetics; DNA structural variation; Oncology
Favero F, Joshi T, Marquard AM, Birkbak NJ, Krzystanek M, Li Q, Szallasi Z, Eklund AC "Sequenza: allele-specific copy number and mutation profiles from tumor sequencing data." Ann Oncol. 2015 Jan;26(1):64-70. https://doi.org/10.1093/annonc/mdu479
PMID: 25319062
PMCID: PMC4269342
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