Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Problems runnig WES, weird segmentation? #138

Open
jgarces02 opened this issue Oct 4, 2024 · 0 comments
Open

Problems runnig WES, weird segmentation? #138

jgarces02 opened this issue Oct 4, 2024 · 0 comments

Comments

@jgarces02
Copy link

Hi there,

I have several WES cfDNA samples at ~90X of coverage and am getting some strange final ichorCNA results: it seems like the "binning" or something related to the coverage isn't working well.

image

Could you please help me to identify what I'm missing? This is the code I run:

$ readCounter --window 1000000 --quality 20 \
	--chromosome "chr1,chr2,chr3,chr4,chr5,chr6,chr7,chr8,chr9,chr10,chr11,chr12,chr13,chr14,chr15,chr16,chr17,chr18,chr19,chr20,chr21,chr22,chrX,chrY" \
	bamfile > bamfile.wig

$ Rscript runIchorCNA.R \
	--gcWig gc_hg38_1000kb.wig --mapWig map_hg38_1000kb.wig \
	--centromere GRCh38.GCA_000001405.2_centromere_acen.txt \
	--normalPanel HD_ULP_PoN_hg38_1Mb_median_normAutosome_median.rds \
	--exons.bed xgen-exome-hyb-panel-v2-probes-hg38.bed \
	--plotYLim "c(-1,1)" \
	--id bamfile_name --WIG bamfile.wig \
	--ploidy "c(2)" --maxCN 5 --normal "c(0.5,0.6,0.7,0.8,0.9,0.95,0.99)" \
	--includeHOMD False --estimateNormal True --estimatePloidy True \
	--genomeBuild "hg38" --genomeStyle "UCSC" --chrs "c(1:22)" --chrTrain "c(1:22)" \
	--estimateScPrevalence False --scStates "c(1,3)"

Thanks

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

1 participant