CNV calling scripts used for testing CNV calling on a small testset of WES samples. Also contains scripts used for CNV calling on Solve-RD Freeze1 data. All scripts are in written in Python 3.7 and can be used as is (no additional packages required, base installation is sufficient). For more information about the folder contents, please see the README file in each folder.
Steps followed for CNV calling with GATK4: (1) https://gatk.broadinstitute.org/hc/en-us/articles/360035531092?id=11682 (2) https://gatk.broadinstitute.org/hc/en-us/articles/360035890011?id=11683