plot-cn-1d2d

This step produces alternate plots that show bins in terms of their computed read-depth ratios (RDR), B-allele frequencies (BAF), and assigned copy-number states. These plots show bins colored by cluster, where the color is consistent between the “2D” (RDR x BAF) view and the “1D” (genomic location x RDR/BAF) view. Additionally, the labeled points in the 2D plots and the black bars in the 1D plots show the expected positions of the assigned copy-number states (determined by the mixture proportions and fractional copy number scaling). These indicators can be used to evaluate the consistency of the HATCHet solution.

When plot_cn = True is indicated in hatchet.ini, both this command and the command plot-cn will be run.

These plots should be used to review the results of the copy-number assignment step compute_cn and tune its parameters. They are most useful when there are few samples - when there are many samples, the visualizations from plot-cn may be more interpretable.

Input

plot-bins requires a single tab-separated file as input. This file (e.g., best.bbc.ucn, results.diploid.n3.bbc.ucn.tsv, …) is typically produced by compute_cn and contains the following fields:

Field Description
CHR Name of a chromosome
START Starting genomic position of a genomic bin in CHR
END Ending genomic position of a genomic bin in CHR
SAMPLE Name of a tumor sample
RD RDR of the bin in SAMPLE
#SNPS Number of SNPs present in the bin in SAMPLE
COV Average coverage in the bin in SAMPLE
ALPHA Alpha parameter related to the binomial model of BAF for the bin in SAMPLE, typically total number of reads from A allele
BETA Beta parameter related to the binomial model of BAF for the bin in SAMPLE, typically total number of reads from B allele
BAF BAF of the bin in SAMPLE
CLUSTER The name of the corresponding cluster of the bin in SAMPLE
cn_normal The copy number state of the normal diploid clone equal to 1|1
u_normal The normal admixture of the normal diploid cells in the corresponding sample
cn_clone${n} The copy number state of the ${n} tumor clone in the format A|B where A and B are the two allele-specific copy numbers of the corresponding genomic bin
u_clone${n} The clone proportion of the ${n} tumor clone in the corresponding sample

Parameters

Name Description Usage Default
-O, --outdir Output directory Directory in which output plots will be stored "" (current directory)
--baflim Axis limits for mirrored BAF Specify limits as comma-separated values, e.g., '0,0.51' None (determined by extremes of data)
--fcnlim Axis limits for fractional copy numbers Specify limits as comma-separated values, e.g., '0,3' None (determined by extremes of data)
--centromeres Mark centromere locations with grey rectangles Enable by including this flag with no argument. False
--bysample Split plots into distinct sample-specific files (instead of grouping all 1D plots together and all 2D plots together) Enable by including this flag with no argument. False