Sequenza is a novel set of tools providing a fast python script to genotype cancer samples, and an R package to estimate cancer cellularity, ploidy, genome wide copy number profile and infer for mutated alleles.
The cellularity and ploidy values of the sample are estimated trough Bayesian inference. The results can be expressed in a selected confidence region (C.R.) and one point estimate.
Copy number and mutations profile
The sequenza R package uses the estimated value of cellularity and ploidy to fit the data into the built-in model, estimating copy number and mutated allele from the data. Furthermore the package provides very intuitive, yet information rich graphics
Genome wide profiling
Copy number and allele composition, genome wide profiles
This file was last modified Wednesday 29th 2017f March 2017 09:20:10 GMT