Hi all, I'm using GATK version 4.1.4.0 and this GATK tutorial to discover and plot some CNVs in a matched tumor/normal. Most of the CNVs have been correctly discovered and plotted, but there's a problem in chromosome level. The modelFinal.seg
and cr.seg
files correctly list the high CNV in chromosome 11:
CONTIG START END NUM_POINTS_COPY_RATIO *MEAN_LOG2_COPY_RATIO*
11 68205061 68568153 61 *3.301253*
11 68571116 68677439 20 *3.906589*
11 68716381 69533794 42 *4.311234*
11 69824572 70249114 79 *3.446989*
But, these do not show up on the plot for modeled segments, on a copy ratio scale of 0 to 4:
I've reduced the minimum contig length from the default of 1,000,000 to 100,000, since these are relatively shorter contigs, but still no luck. Any thoughts?
Here's my current command for this step:
gatk PlotModeledSegments
--denoised-copy-ratios /practice/output/TP-01.denoisedCR.tsv
--allelic-counts /practice/output/TP-01.hets.tsv
--segments /practice/output/TP-01.modelFinal.seg
--sequence-dictionary /Resources/human_g1k_v37_decoy_plus_virus.dict
--minimum-contig-length 100000
--output /practice/output_plots/
--output-prefix 1_length_contig