I received Whole Exome Sequencing data from an NGS company (CARIS, specifically). I received R1 and R2 FASTQ files, a BAM file aligned to hg38, and a VCF file.
I used CNVPytor to create a CNV plot (Manhattan plot), by following this example Jupyter Notebook here: https://github.com/abyzovlab/CNVpytor/blob/master/examples/PythonLibraryGuide.ipynb
However, when I run this code on my data, I get the following graph:
Furthermore, I tried to use CNVKit and used the following steps/code:
cnvkit.py batch TN21-116928.DNA.bam --normal -m hybrid --fasta hg38.fa --targets targets.bed --output-reference my_reference.cnn
Where "targets.bed" was a file of the following form:
chr1 33306766 33321098 A3GALT2
chr22 42692121 42721298 A4GALT
chr3 138123713 138132390 A4GNT
chr12 53307456 53324864 AAAS
chr12 125065434 125143333 AACS
chr3 151814073 151828488 AADAC
The graph created from this is the following:
Does anyone know where I am going wrong? Any pointers?
cnvkit.py scatter -s Sample.cn{s,r} -c chr7
maybe? Anyway its a cool question (except for the results) $\endgroup$